Linked Data
ClinVar Variation Id:
5535
ClinVar RCV Id:
RCV000005873
dbSNP Id:
rs121912630
ExAC:
12:66597584 G / A
gnomAD v2:
12-66597584-G-A
gnomAD v3:
12-66203804-G-A
gnomAD v4:
12-66203804-G-A
PubMed:
PMID:17503328
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66203804G>A , CM000674.2:g.66203804G>A | GRCh38 |
| NC_000012.11:g.66597584G>A , CM000674.1:g.66597584G>A | GRCh37 |
| NC_000012.10:g.64883851G>A | NCBI36 |
| NG_021194.1:g.19607G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261233.9:c.227G>A MANE Select | ENSP00000261233.4:p.Trp76Ter | |
| ENST00000261233.8:c.227G>A | ENSP00000261233.4:p.Trp76Ter | |
| ENST00000457197.2:c.134-5652G>A | ENSP00000409852.2:n.134-5652G>A | |
| NM_001142523.1:c.134-5652G>A | NP_001135995.1:n.134-5652G>A | |
| NM_007199.2:c.227G>A | NP_009130.2:p.Trp76Ter | |
| NM_001142523.2:c.134-5652G>A | NP_001135995.1:n.134-5652G>A | |
| NM_007199.3:c.227G>A MANE Select | NP_009130.2:p.Trp76Ter |