UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs768014241
gnomAD v2:
10-123625111-G-A
gnomAD v3:
10-121865596-G-A
gnomAD v4:
10-121865596-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121865596G>A , CM000672.2:g.121865596G>A | GRCh38 |
| NC_000010.10:g.123625111G>A , CM000672.1:g.123625111G>A | GRCh37 |
| NC_000010.9:g.123615101G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224652.12:c.975+4410C>T MANE Select | ENSP00000224652.6:n.975+4410C>T | |
| ENST00000369040.9:c.846+4410C>T | ENSP00000358036.4:n.846+4410C>T | |
| ENST00000423243.7:c.*692+4410C>T | ENSP00000397787.2:n.*692+4410C>T | |
| ENST00000540606.7:c.954+4410C>T | ENSP00000440881.1:n.954+4410C>T | |
| ENST00000684876.1:c.*505+4410C>T | ENSP00000509855.1:n.*505+4410C>T | |
| ENST00000684967.1:c.625+4410C>T | ENSP00000508860.1:n.625+4410C>T | |
| ENST00000685007.1:c.975+4410C>T | ENSP00000508990.1:n.975+4410C>T | |
| ENST00000685072.1:c.975+4410C>T | ENSP00000510276.1:n.975+4410C>T | |
| ENST00000685289.1:c.867+4410C>T | ENSP00000508767.1:n.867+4410C>T | |
| ENST00000685427.1:c.616+4410C>T | ENSP00000509070.1:n.616+4410C>T | |
| ENST00000685890.1:c.975+4410C>T | ENSP00000509513.1:n.975+4410C>T | |
| ENST00000686451.1:c.*692+4410C>T | ENSP00000508510.1:n.*692+4410C>T | |
| ENST00000686786.1:c.871+4410C>T | ENSP00000510158.1:n.871+4410C>T | |
| ENST00000686811.1:c.*763+4410C>T | ENSP00000509838.1:n.*763+4410C>T | |
| ENST00000686894.1:c.*692+4410C>T | ENSP00000508873.1:n.*692+4410C>T | |
| ENST00000686907.1:c.867+4410C>T | ENSP00000510093.1:n.867+4410C>T | |
| ENST00000687089.1:c.975+4410C>T | ENSP00000510151.1:n.975+4410C>T | |
| ENST00000687144.1:c.-241+4410C>T | ENSP00000508536.1:n.-241+4410C>T | |
| ENST00000687206.1:c.975+4410C>T | ENSP00000509919.1:n.975+4410C>T | |
| ENST00000687319.1:c.808+4410C>T | ENSP00000509827.1:n.808+4410C>T | |
| ENST00000687458.1:c.975+4410C>T | ENSP00000509243.1:n.975+4410C>T | |
| ENST00000687583.1:c.912+4410C>T | ENSP00000508433.1:n.912+4410C>T | |
| ENST00000687607.1:c.266+4410C>T | ENSP00000510186.1:n.266+4410C>T | |
| ENST00000687935.1:c.867+4410C>T | ENSP00000510701.1:n.867+4410C>T | |
| ENST00000688057.1:c.912+4410C>T | ENSP00000510446.1:n.912+4410C>T | |
| ENST00000688424.1:c.107-24333C>T | ENSP00000509454.1:n.107-24333C>T | |
| ENST00000688526.1:c.954+4410C>T | ENSP00000510389.1:n.954+4410C>T | |
| ENST00000689057.1:c.867+4410C>T | ENSP00000509905.1:n.867+4410C>T | |
| ENST00000689297.1:c.616+4410C>T | ENSP00000509194.1:n.616+4410C>T | |
| ENST00000689393.1:c.867+4410C>T | ENSP00000509487.1:n.867+4410C>T | |
| ENST00000689455.1:c.*634+4410C>T | ENSP00000509256.1:n.*634+4410C>T | |
| ENST00000689571.1:c.954+4410C>T | ENSP00000509590.1:n.954+4410C>T | |
| ENST00000689834.1:c.85+62751C>T | ENSP00000510230.1:n.85+62751C>T | |
| ENST00000690128.1:c.118+4410C>T | ENSP00000508780.1:n.118+4410C>T | |
| ENST00000690324.1:c.641+4410C>T | ENSP00000510284.1:n.641+4410C>T | |
| ENST00000690355.1:c.1104+4410C>T | ENSP00000510433.1:n.1104+4410C>T | |
| ENST00000690415.1:c.975+4410C>T | ENSP00000509607.1:n.975+4410C>T | |
| ENST00000690488.1:c.*692+4410C>T | ENSP00000508716.1:n.*692+4410C>T | |
| ENST00000690706.1:c.*634+4410C>T | ENSP00000508994.1:n.*634+4410C>T | |
| ENST00000690748.1:c.954+4410C>T | ENSP00000510080.1:n.954+4410C>T | |
| ENST00000690773.1:c.723+4410C>T | ENSP00000509670.1:n.723+4410C>T | |
| ENST00000690984.1:c.33+4410C>T | ENSP00000510447.1:n.33+4410C>T | |
| ENST00000691041.1:c.*88+4410C>T | ENSP00000509064.1:n.*88+4410C>T | |
| ENST00000691087.1:c.*104+4410C>T | ENSP00000510049.1:n.*104+4410C>T | |
| ENST00000691108.1:c.*235+4410C>T | ENSP00000510097.1:n.*235+4410C>T | |
| ENST00000691226.1:c.139+4410C>T | ENSP00000510406.1:n.139+4410C>T | |
| ENST00000691573.1:c.867+4410C>T | ENSP00000508420.1:n.867+4410C>T | |
| ENST00000691765.1:c.942+34270C>T | ENSP00000509363.1:n.942+34270C>T | |
| ENST00000691830.1:c.975+4410C>T | ENSP00000509345.1:n.975+4410C>T | |
| ENST00000692034.1:n.141+62751C>T | ||
| ENST00000692087.1:c.616+4410C>T | ENSP00000508850.1:n.616+4410C>T | |
| ENST00000692255.1:c.*333+4410C>T | ENSP00000510575.1:n.*333+4410C>T | |
| ENST00000692278.1:c.867+4410C>T | ENSP00000510033.1:n.867+4410C>T | |
| ENST00000692329.1:c.867+4410C>T | ENSP00000508735.1:n.867+4410C>T | |
| ENST00000692491.1:c.*275+4410C>T | ENSP00000508429.1:n.*275+4410C>T | |
| ENST00000692513.1:c.*136+4410C>T | ENSP00000509908.1:n.*136+4410C>T | |
| ENST00000692718.1:c.*692+4410C>T | ENSP00000509984.1:n.*692+4410C>T | |
| ENST00000692743.1:c.*275+4410C>T | ENSP00000510485.1:n.*275+4410C>T | |
| ENST00000693276.1:c.744+4410C>T | ENSP00000509714.1:n.744+4410C>T | |
| ENST00000693395.1:c.106+62248C>T | ENSP00000508971.1:n.106+62248C>T | |
| ENST00000693411.1:c.867+4410C>T | ENSP00000508941.1:n.867+4410C>T | |
| ENST00000693486.1:c.975+4410C>T | ENSP00000510184.1:n.975+4410C>T | |
| ENST00000693655.1:c.-240-24333C>T | ENSP00000509079.1:n.-240-24333C>T | |
| ENST00000224652.11:c.975+4410C>T | ENSP00000224652.6:n.975+4410C>T | |
| ENST00000369040.8:c.846+4410C>T | ENSP00000358036.4:n.846+4410C>T | |
| ENST00000369043.8:c.975+4410C>T | ENSP00000358039.3:n.975+4410C>T | |
| ENST00000423243.6:c.*692+4410C>T | ENSP00000397787.2:n.*692+4410C>T | |
| ENST00000540606.6:c.954+4410C>T | ENSP00000440881.1:n.954+4410C>T | |
| ENST00000224652.10:c.975+4410C>T | ENSP00000224652.6:n.975+4410C>T | |
| ENST00000369040.7:c.687+4410C>T | ENSP00000358036.3:n.687+4410C>T | |
| ENST00000369043.7:c.975+4410C>T | ENSP00000358039.3:n.975+4410C>T | |
| ENST00000423243.5:c.964+4410C>T | ||
| ENST00000481784.1:n.181+4410C>T | ||
| ENST00000540606.5:c.954+4410C>T | ENSP00000440881.1:n.954+4410C>T | |
| ENST00000543447.5:c.630+4410C>T | ENSP00000444852.1:n.630+4410C>T | |
| NM_001001976.2:c.975+4410C>T | NP_001001976.1:n.975+4410C>T | |
| NM_001288734.1:c.630+4410C>T | NP_001275663.1:n.630+4410C>T | |
| NM_001288735.1:c.687+4410C>T | NP_001275664.1:n.687+4410C>T | |
| NM_001288736.1:c.954+4410C>T | NP_001275665.1:n.954+4410C>T | |
| NM_007041.3:c.975+4410C>T | NP_008972.2:n.975+4410C>T | |
| NR_110006.1:n.1031+4410C>T | ||
| XM_005269458.1:c.1104+4410C>T | XP_005269515.1:n.1104+4410C>T | |
| XM_005269459.2:c.1083+4410C>T | XP_005269516.1:n.1083+4410C>T | |
| XM_011539183.1:c.648+4410C>T | XP_011537485.1:n.648+4410C>T | |
| XM_005269458.3:c.1104+4410C>T | XP_005269515.1:n.1104+4410C>T | |
| XM_005269459.3:c.1083+4410C>T | XP_005269516.1:n.1083+4410C>T | |
| XM_017015597.1:c.874-24333C>T | XP_016871086.1:n.874-24333C>T | |
| XM_017015598.2:c.954+4410C>T | XP_016871087.1:n.954+4410C>T | |
| XM_017015599.2:c.846+4410C>T | XP_016871088.1:n.846+4410C>T | |
| XM_017015600.1:c.759+4410C>T | XP_016871089.1:n.759+4410C>T | |
| XM_017015602.1:c.630+4410C>T | XP_016871091.1:n.630+4410C>T | |
| XM_017015604.1:c.501+4410C>T | XP_016871093.1:n.501+4410C>T | |
| NM_007041.4:c.975+4410C>T | NP_008972.2:n.975+4410C>T | |
| NR_110006.2:n.693+4410C>T | ||
| NM_001001976.3:c.975+4410C>T MANE Select | NP_001001976.1:n.975+4410C>T | |
| NM_001288734.2:c.630+4410C>T | NP_001275663.1:n.630+4410C>T | |
| NM_001288735.2:c.687+4410C>T | NP_001275664.1:n.687+4410C>T | |
| NM_001288736.2:c.954+4410C>T | NP_001275665.1:n.954+4410C>T |