Linked Data
ClinVar Variation Id:
1933753
ClinVar RCV Id:
RCV002627191
dbSNP Id:
rs768637533
ExAC:
11:124508467 C / T
gnomAD v2:
11-124508467-C-T
gnomAD v4:
11-124638571-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124638571C>T , CM000673.2:g.124638571C>T | GRCh38 |
| NC_000011.9:g.124508467C>T , CM000673.1:g.124508467C>T | GRCh37 |
| NC_000011.8:g.124013677C>T | NCBI36 |
| NG_028132.1:g.42733G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263593.8:c.1291G>A MANE Select | ENSP00000263593.3:p.Val431Met | |
| ENST00000263593.7:c.1291G>A | ENSP00000263593.3:p.Val431Met | |
| ENST00000545756.5:c.1186G>A | ENSP00000437877.1:p.Val396Met | |
| ENST00000618733.4:c.1186G>A | ENSP00000478211.1:p.Val396Met | |
| NM_001199922.1:c.1186G>A | NP_001186851.1:p.Val396Met | |
| NM_170601.4:c.1291G>A | NP_733746.1:p.Val431Met | |
| XM_011542874.1:c.718G>A | XP_011541176.1:p.Val240Met | |
| XM_017017930.1:c.718G>A | XP_016873419.1:p.Val240Met | |
| NM_170601.5:c.1291G>A MANE Select | NP_733746.1:p.Val431Met | |
| NM_001199922.2:c.1186G>A | NP_001186851.1:p.Val396Met |