Linked Data
ClinVar Variation Id:
91908
ClinVar RCV Id:
RCV000128477
dbSNP Id:
rs386834230
gnomAD v3:
15-100887578-G-A
gnomAD v4:
15-100887578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100887578G>A , CM000677.2:g.100887578G>A | GRCh38 |
| NC_000015.9:g.101427783G>A , CM000677.1:g.101427783G>A | GRCh37 |
| NC_000015.8:g.99245306G>A | NCBI36 |
| NG_012254.1:g.12775G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329841.10:c.211G>A MANE Select | ENSP00000332256.5:p.Val71Met | |
| ENST00000329841.9:c.211G>A | ENSP00000332256.5:p.Val71Met | |
| ENST00000346623.6:c.211G>A | ENSP00000343294.6:p.Val71Met | |
| ENST00000558033.5:c.211G>A | ENSP00000454107.1:p.Val71Met | |
| ENST00000560555.1:n.271G>A | ||
| ENST00000561338.5:c.127G>A | ENSP00000452789.1:p.Val43Met | |
| NM_000693.3:c.211G>A | NP_000684.2:p.Val71Met | |
| NM_001293815.1:c.211G>A | NP_001280744.1:p.Val71Met | |
| NM_000693.4:c.211G>A MANE Select | NP_000684.2:p.Val71Met | |
| NM_001293815.2:c.211G>A | NP_001280744.1:p.Val71Met |