Linked Data
ClinVar Variation Id:
292442
ClinVar RCV Id:
RCV000352700
dbSNP Id:
rs886045246
gnomAD v3:
1-147757642-T-A
gnomAD v4:
1-147757642-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147757642T>A , CM000663.2:g.147757642T>A | GRCh38 |
| NC_000001.10:g.147229750T>A , CM000663.1:g.147229750T>A | GRCh37 |
| NC_000001.9:g.145696374T>A | NCBI36 |
| NG_009369.2:g.20733A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000579774.3:c.*520A>T MANE Select | ENSP00000463851.1:n.*520A>T | |
| ENST00000579774.2:c.*520A>T | ENSP00000463851.1:n.*520A>T | |
| ENST00000621517.1:c.*520A>T | ENSP00000484552.1:n.*520A>T | |
| NM_005266.6:c.*520A>T | NP_005257.2:n.*520A>T | |
| NM_181703.3:c.*520A>T | NP_859054.1:n.*520A>T | |
| XM_005272951.3:c.*520A>T | XP_005273008.1:n.*520A>T | |
| XM_011509415.1:c.*520A>T | XP_011507717.1:n.*520A>T | |
| XR_922078.1:n.434-19919T>A | ||
| XR_922079.1:n.434-19919T>A | ||
| XM_005272951.4:c.*520A>T | XP_005273008.1:n.*520A>T | |
| XM_017001044.1:c.*520A>T | XP_016856533.1:n.*520A>T | |
| XR_922079.3:n.744-19919T>A | ||
| NM_181703.4:c.*520A>T MANE Select | NP_859054.1:n.*520A>T | |
| NM_005266.7:c.*520A>T | NP_005257.2:n.*520A>T |