Linked Data
ClinVar Variation Id:
499040
dbSNP Id:
rs775395972
ExAC:
2:71778293 C / T
gnomAD v2:
2-71778293-C-T
gnomAD v3:
2-71551163-C-T
gnomAD v4:
2-71551163-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71551163C>T , CM000664.2:g.71551163C>T | GRCh38 |
| NC_000002.11:g.71778293C>T , CM000664.1:g.71778293C>T | GRCh37 |
| NC_000002.10:g.71631801C>T | NCBI36 |
| NG_008694.1:g.102541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258104.8:c.1638+7C>T MANE Plus Clinical | ENSP00000258104.3:n.1638+7C>T | |
| ENST00000410020.8:c.1692+7C>T MANE Select | ENSP00000386881.3:n.1692+7C>T | |
| ENST00000258104.7:c.1638+7C>T | ENSP00000258104.3:n.1638+7C>T | |
| ENST00000394120.6:c.1641+7C>T | ENSP00000377678.2:n.1641+7C>T | |
| ENST00000409366.5:c.1641+7C>T | ENSP00000386512.1:n.1641+7C>T | |
| ENST00000409582.7:c.1689+7C>T | ENSP00000386547.3:n.1689+7C>T | |
| ENST00000409651.5:c.1734+7C>T | ENSP00000386683.1:n.1734+7C>T | |
| ENST00000409744.5:c.1599+7C>T | ENSP00000386285.1:n.1599+7C>T | |
| ENST00000409762.5:c.1689+7C>T | ENSP00000387137.1:n.1689+7C>T | |
| ENST00000410020.7:c.1692+7C>T | ENSP00000386881.3:n.1692+7C>T | |
| ENST00000410041.1:c.1692+7C>T | ENSP00000386617.1:n.1692+7C>T | |
| ENST00000413539.6:c.1731+7C>T | ENSP00000407046.2:n.1731+7C>T | |
| ENST00000429174.6:c.1638+7C>T | ENSP00000398305.2:n.1638+7C>T | |
| NM_001130455.1:c.1641+7C>T | NP_001123927.1:n.1641+7C>T | |
| NM_001130976.1:c.1596+7C>T | NP_001124448.1:n.1596+7C>T | |
| NM_001130977.1:c.1596+7C>T | NP_001124449.1:n.1596+7C>T | |
| NM_001130978.1:c.1638+7C>T | NP_001124450.1:n.1638+7C>T | |
| NM_001130979.1:c.1731+7C>T | NP_001124451.1:n.1731+7C>T | |
| NM_001130980.1:c.1689+7C>T | NP_001124452.1:n.1689+7C>T | |
| NM_001130981.1:c.1689+7C>T | NP_001124453.1:n.1689+7C>T | |
| NM_001130982.1:c.1734+7C>T | NP_001124454.1:n.1734+7C>T | |
| NM_001130983.1:c.1641+7C>T | NP_001124455.1:n.1641+7C>T | |
| NM_001130984.1:c.1599+7C>T | NP_001124456.1:n.1599+7C>T | |
| NM_001130985.1:c.1692+7C>T | NP_001124457.1:n.1692+7C>T | |
| NM_001130986.1:c.1599+7C>T | NP_001124458.1:n.1599+7C>T | |
| NM_001130987.1:c.1692+7C>T | NP_001124459.1:n.1692+7C>T | |
| NM_003494.3:c.1638+7C>T | NP_003485.1:n.1638+7C>T | |
| XM_005264584.3:c.1734+7C>T | XP_005264641.1:n.1734+7C>T | |
| XM_005264585.3:c.1731+7C>T | XP_005264642.1:n.1731+7C>T | |
| XM_005264584.4:c.1734+7C>T | XP_005264641.1:n.1734+7C>T | |
| XM_005264585.5:c.1731+7C>T | XP_005264642.1:n.1731+7C>T | |
| XR_001738969.1:n.1892+7C>T | ||
| NM_001130987.2:c.1692+7C>T MANE Select | NP_001124459.1:n.1692+7C>T | |
| NM_001130455.2:c.1641+7C>T | NP_001123927.1:n.1641+7C>T | |
| NM_001130976.2:c.1596+7C>T | NP_001124448.1:n.1596+7C>T | |
| NM_001130977.2:c.1596+7C>T | NP_001124449.1:n.1596+7C>T | |
| NM_001130978.2:c.1638+7C>T | NP_001124450.1:n.1638+7C>T | |
| NM_001130979.2:c.1731+7C>T | NP_001124451.1:n.1731+7C>T | |
| NM_001130980.2:c.1689+7C>T | NP_001124452.1:n.1689+7C>T | |
| NM_001130981.2:c.1689+7C>T | NP_001124453.1:n.1689+7C>T | |
| NM_001130982.2:c.1734+7C>T | NP_001124454.1:n.1734+7C>T | |
| NM_001130983.2:c.1641+7C>T | NP_001124455.1:n.1641+7C>T | |
| NM_001130984.2:c.1599+7C>T | NP_001124456.1:n.1599+7C>T | |
| NM_001130985.2:c.1692+7C>T | NP_001124457.1:n.1692+7C>T | |
| NM_001130986.2:c.1599+7C>T | NP_001124458.1:n.1599+7C>T | |
| NM_003494.4:c.1638+7C>T MANE Plus Clinical | NP_003485.1:n.1638+7C>T |