Linked Data
ClinVar Variation Id:
1609284
ClinVar RCV Id:
RCV002155210
dbSNP Id:
rs368142158
ExAC:
4:103500215 A / T
gnomAD v2:
4-103500215-A-T
gnomAD v3:
4-102579058-A-T
gnomAD v4:
4-102579058-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102579058A>T , CM000666.2:g.102579058A>T | GRCh38 |
| NC_000004.11:g.103500215A>T , CM000666.1:g.103500215A>T | GRCh37 |
| NC_000004.10:g.103719253A>T | NCBI36 |
| NG_050628.1:g.82730A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.754+19A>T | ENSP00000426147.2:n.754+19A>T | |
| ENST00000509165.2:c.730+19A>T | ENSP00000423877.2:n.730+19A>T | |
| ENST00000697794.1:c.*371+19A>T | ENSP00000513443.1:n.*371+19A>T | |
| ENST00000226574.9:c.730+19A>T MANE Select | ENSP00000226574.4:n.730+19A>T | |
| ENST00000652569.1:c.644+19A>T | ||
| ENST00000652619.1:c.751+19A>T | ENSP00000499031.1:n.751+19A>T | |
| ENST00000226574.8:c.730+19A>T | ENSP00000226574.4:n.730+19A>T | |
| ENST00000394820.8:c.727+19A>T | ENSP00000378297.4:n.727+19A>T | |
| ENST00000505458.5:c.727+19A>T | ENSP00000424790.1:n.727+19A>T | |
| ENST00000508584.1:c.109+19A>T | ENSP00000424815.1:n.109+19A>T | |
| ENST00000510638.1:n.574+19A>T | ||
| ENST00000600343.5:c.187+19A>T | ENSP00000469340.1:n.187+19A>T | |
| NM_001165412.1:c.727+19A>T | NP_001158884.1:n.727+19A>T | |
| NM_003998.3:c.730+19A>T | NP_003989.2:n.730+19A>T | |
| XM_011532006.1:c.751+19A>T | XP_011530308.1:n.751+19A>T | |
| XM_011532007.1:c.727+19A>T | XP_011530309.1:n.727+19A>T | |
| XM_011532008.1:c.572-1477A>T | XP_011530310.1:n.572-1477A>T | |
| XM_011532009.1:c.334+19A>T | XP_011530311.1:n.334+19A>T | |
| NM_001319226.1:c.727+19A>T | NP_001306155.1:n.727+19A>T | |
| XM_011532006.2:c.751+19A>T | XP_011530308.1:n.751+19A>T | |
| XM_024454067.1:c.754+19A>T | XP_024309835.1:n.754+19A>T | |
| XM_024454068.1:c.730+19A>T | XP_024309836.1:n.730+19A>T | |
| XM_024454069.1:c.596-1477A>T | XP_024309837.1:n.596-1477A>T | |
| NM_003998.4:c.730+19A>T MANE Select | NP_003989.2:n.730+19A>T | |
| NM_001165412.2:c.727+19A>T | NP_001158884.1:n.727+19A>T | |
| NM_001319226.2:c.727+19A>T | NP_001306155.1:n.727+19A>T | |
| NM_001382625.1:c.730+19A>T | NP_001369554.1:n.730+19A>T | |
| NM_001382626.1:c.730+19A>T | NP_001369555.1:n.730+19A>T | |
| NM_001382627.1:c.727+19A>T | NP_001369556.1:n.727+19A>T | |
| NM_001382628.1:c.688+19A>T | NP_001369557.1:n.688+19A>T |