Linked Data
dbSNP Id:
rs375828693
gnomAD v2:
4-103519637-A-T
gnomAD v3:
4-102598480-A-T
gnomAD v4:
4-102598480-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102598480A>T , CM000666.2:g.102598480A>T | GRCh38 |
| NC_000004.11:g.103519637A>T , CM000666.1:g.103519637A>T | GRCh37 |
| NC_000004.10:g.103738675A>T | NCBI36 |
| NG_050628.1:g.102152A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.1661+819A>T | ENSP00000426147.2:n.1661+819A>T | |
| ENST00000509165.2:c.1637+819A>T | ENSP00000423877.2:n.1637+819A>T | |
| ENST00000697794.1:c.*1278+819A>T | ENSP00000513443.1:n.*1278+819A>T | |
| ENST00000697799.1:n.1134+819A>T | ||
| ENST00000698233.1:n.1366+819A>T | ||
| ENST00000226574.9:c.1637+819A>T MANE Select | ENSP00000226574.4:n.1637+819A>T | |
| ENST00000652569.1:c.1613+819A>T | ||
| ENST00000652619.1:c.*164+819A>T | ENSP00000499031.1:n.*164+819A>T | |
| ENST00000226574.8:c.1637+819A>T | ENSP00000226574.4:n.1637+819A>T | |
| ENST00000394820.8:c.1634+819A>T | ENSP00000378297.4:n.1634+819A>T | |
| ENST00000505458.5:c.1634+819A>T | ENSP00000424790.1:n.1634+819A>T | |
| ENST00000600343.5:c.1094+819A>T | ENSP00000469340.1:n.1094+819A>T | |
| NM_001165412.1:c.1634+819A>T | NP_001158884.1:n.1634+819A>T | |
| NM_003998.3:c.1637+819A>T | NP_003989.2:n.1637+819A>T | |
| XM_011532006.1:c.1658+819A>T | XP_011530308.1:n.1658+819A>T | |
| XM_011532007.1:c.1634+819A>T | XP_011530309.1:n.1634+819A>T | |
| XM_011532008.1:c.1478+819A>T | XP_011530310.1:n.1478+819A>T | |
| XM_011532009.1:c.1241+819A>T | XP_011530311.1:n.1241+819A>T | |
| XR_939027.1:n.3847T>A | ||
| NM_001319226.1:c.1634+819A>T | NP_001306155.1:n.1634+819A>T | |
| XM_011532006.2:c.1658+819A>T | XP_011530308.1:n.1658+819A>T | |
| XM_024454067.1:c.1661+819A>T | XP_024309835.1:n.1661+819A>T | |
| XM_024454068.1:c.1637+819A>T | XP_024309836.1:n.1637+819A>T | |
| XM_024454069.1:c.1502+819A>T | XP_024309837.1:n.1502+819A>T | |
| NM_003998.4:c.1637+819A>T MANE Select | NP_003989.2:n.1637+819A>T | |
| NM_001165412.2:c.1634+819A>T | NP_001158884.1:n.1634+819A>T | |
| NM_001319226.2:c.1634+819A>T | NP_001306155.1:n.1634+819A>T | |
| NM_001382625.1:c.1637+819A>T | NP_001369554.1:n.1637+819A>T | |
| NM_001382626.1:c.1637+819A>T | NP_001369555.1:n.1637+819A>T | |
| NM_001382627.1:c.1634+819A>T | NP_001369556.1:n.1634+819A>T | |
| NM_001382628.1:c.1595+819A>T | NP_001369557.1:n.1595+819A>T |