Linked Data
ClinVar Variation Id:
1948712
ClinVar RCV Id:
RCV002667947
dbSNP Id:
rs756987474
ExAC:
16:2035982 G / A
gnomAD v2:
16-2035982-G-A
gnomAD v3:
16-1985981-G-A
gnomAD v4:
16-1985981-G-A
COSMIC:
COSM5850356
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985981G>A , CM000678.2:g.1985981G>A | GRCh38 |
| NC_000016.9:g.2035982G>A , CM000678.1:g.2035982G>A | GRCh37 |
| NC_000016.8:g.1975983G>A | NCBI36 |
| NG_016288.1:g.6833G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.346G>A | ENSP00000455885.1:p.Val116Met | |
| ENST00000248114.7:c.571G>A MANE Select | ENSP00000248114.6:p.Val191Met | |
| ENST00000248114.6:c.571G>A | ENSP00000248114.6:p.Val191Met | |
| ENST00000565658.1:n.728G>A | ||
| ENST00000567719.1:c.346G>A | ENSP00000455885.1:p.Val116Met | |
| ENST00000569451.1:c.*44G>A | ENSP00000456432.1:n.*44G>A | |
| NM_005262.2:c.571G>A | NP_005253.3:p.Val191Met | |
| NM_005262.3:c.571G>A MANE Select | NP_005253.3:p.Val191Met |