Linked Data
ClinVar Variation Id:
276
ClinVar RCV Id:
RCV000000300
dbSNP Id:
rs121965062
PubMed:
PMID:10583218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1754289G>A , CM000679.2:g.1754289G>A | GRCh38 |
| NC_000017.10:g.1657583G>A , CM000679.1:g.1657583G>A | GRCh37 |
| NC_000017.9:g.1604333G>A | NCBI36 |
| NG_013215.1:g.16454G>A , LRG_885:g.16454G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382061.5:c.1231G>A | ENSP00000371493.4:p.Val411Met | |
| ENST00000453066.6:c.1231G>A MANE Select | ENSP00000402286.2:p.Val411Met | |
| ENST00000324015.7:c.1231G>A | ENSP00000321853.3:p.Val411Met | |
| ENST00000382061.4:c.1231G>A | ENSP00000371493.4:p.Val411Met | |
| ENST00000450523.6:c.1039G>A | ENSP00000403877.2:p.Val347Met | |
| NM_000934.3:c.1231G>A , LRG_885t1:c.1231G>A | NP_000925.2:p.Val411Met | |
| NM_001165920.1:c.1231G>A | NP_001159392.1:p.Val411Met | |
| NM_001165921.1:c.1039G>A | NP_001159393.1:p.Val347Met | |
| XM_005256699.3:c.1336G>A | XP_005256756.1:p.Val446Met | |
| XM_005256700.3:c.1243G>A | XP_005256757.1:p.Val415Met | |
| XM_005256701.3:c.1279G>A | XP_005256758.2:p.Val427Met | |
| XM_005256703.3:c.1150G>A | XP_005256760.1:p.Val384Met | |
| XM_005256701.4:c.1279G>A | XP_005256758.2:p.Val427Met | |
| XM_017024765.1:c.1243G>A | XP_016880254.1:p.Val415Met | |
| XM_024450805.1:c.1243G>A | XP_024306573.1:p.Val415Met | |
| NM_000934.4:c.1231G>A MANE Select | NP_000925.2:p.Val411Met | |
| NM_001165921.2:c.1039G>A | NP_001159393.1:p.Val347Met |