Linked Data
dbSNP Id:
rs901455774
gnomAD v2:
19-36595145-T-C
gnomAD v3:
19-36104243-T-C
gnomAD v4:
19-36104243-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36104243T>C , CM000681.2:g.36104243T>C | GRCh38 |
| NC_000019.9:g.36595145T>C , CM000681.1:g.36595145T>C | GRCh37 |
| NC_000019.8:g.41286985T>C | NCBI36 |
| NG_028101.1:g.54363T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.4138+262T>C | ENSP00000270301.6:n.4138+262T>C | |
| ENST00000401500.7:c.4153+262T>C MANE Select | ENSP00000384792.1:n.4153+262T>C | |
| ENST00000587391.6:c.*4013+262T>C | ENSP00000465525.1:n.*4013+262T>C | |
| ENST00000679357.1:c.2233+262T>C | ||
| ENST00000679598.1:c.918+262T>C | ||
| ENST00000679682.1:c.4138+262T>C | ENSP00000506226.1:n.4138+262T>C | |
| ENST00000679714.1:c.4147+262T>C | ENSP00000506627.1:n.4147+262T>C | |
| ENST00000679757.1:c.3802+262T>C | ENSP00000505158.1:n.3802+262T>C | |
| ENST00000679858.1:c.*3535+262T>C | ENSP00000505655.1:n.*3535+262T>C | |
| ENST00000680211.1:c.754+262T>C | ENSP00000506102.1:n.754+262T>C | |
| ENST00000680280.1:n.1656+262T>C | ||
| ENST00000680349.1:n.2802+262T>C | ||
| ENST00000680403.1:c.4138+262T>C | ENSP00000505677.1:n.4138+262T>C | |
| ENST00000680564.1:c.3904+262T>C | ENSP00000505582.1:n.3904+262T>C | |
| ENST00000680590.1:c.*2533+262T>C | ENSP00000505350.1:n.*2533+262T>C | |
| ENST00000680597.1:c.886+262T>C | ||
| ENST00000680739.1:c.1168+262T>C | ||
| ENST00000680773.1:n.2654+262T>C | ||
| ENST00000680806.1:c.*3456+262T>C | ENSP00000506418.1:n.*3456+262T>C | |
| ENST00000680997.1:n.2085+262T>C | ||
| ENST00000681608.1:n.1998+262T>C | ||
| ENST00000681625.1:c.*1485+262T>C | ENSP00000505555.1:n.*1485+262T>C | |
| ENST00000681648.1:n.1930T>C | ||
| ENST00000270301.11:c.4138+262T>C | ENSP00000270301.6:n.4138+262T>C | |
| ENST00000401500.6:c.4153+262T>C | ENSP00000384792.1:n.4153+262T>C | |
| ENST00000587391.5:c.*4013+262T>C | ENSP00000465525.1:n.*4013+262T>C | |
| NM_001083961.1:c.4153+262T>C | NP_001077430.1:n.4153+262T>C | |
| NM_173636.4:c.4138+262T>C | NP_775907.4:n.4138+262T>C | |
| XM_005258809.2:c.4042+262T>C | XP_005258866.1:n.4042+262T>C | |
| XM_011526837.1:c.4138+262T>C | XP_011525139.1:n.4138+262T>C | |
| XM_011526838.1:c.3904+262T>C | XP_011525140.1:n.3904+262T>C | |
| XM_011526839.1:c.3802+262T>C | XP_011525141.1:n.3802+262T>C | |
| XM_011526840.1:c.3145+262T>C | XP_011525142.1:n.3145+262T>C | |
| XM_011526841.1:c.2731+262T>C | XP_011525143.1:n.2731+262T>C | |
| XM_011526842.1:c.2584+262T>C | XP_011525144.1:n.2584+262T>C | |
| XM_011526843.1:c.1900+262T>C | XP_011525145.1:n.1900+262T>C | |
| XM_011526844.1:c.1900+262T>C | XP_011525146.1:n.1900+262T>C | |
| XM_011526840.2:c.3145+262T>C | XP_011525142.1:n.3145+262T>C | |
| XM_011526841.2:c.2731+262T>C | XP_011525143.1:n.2731+262T>C | |
| XM_011526844.2:c.1900+262T>C | XP_011525146.1:n.1900+262T>C | |
| XM_017026665.1:c.4153+262T>C | XP_016882154.1:n.4153+262T>C | |
| NM_001083961.2:c.4153+262T>C MANE Select | NP_001077430.1:n.4153+262T>C | |
| NM_173636.5:c.4138+262T>C | NP_775907.4:n.4138+262T>C |