Linked Data
ClinVar Variation Id:
12932
dbSNP Id:
rs121918611
gnomAD v2:
5-176813474-G-A
gnomAD v3:
5-177386473-G-A
gnomAD v4:
5-177386473-G-A
PubMed:
PMID:12324554
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177386473G>A , CM000667.2:g.177386473G>A | GRCh38 |
| NC_000005.9:g.176813474G>A , CM000667.1:g.176813474G>A | GRCh37 |
| NC_000005.8:g.176746080G>A | NCBI36 |
| NG_016223.1:g.7043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324417.6:c.439G>A MANE Select | ENSP00000321424.4:p.Val147Met | |
| ENST00000324417.5:c.439G>A | ENSP00000321424.4:p.Val147Met | |
| ENST00000507685.5:n.523G>A | ||
| ENST00000512593.5:c.439G>A | ENSP00000423022.1:p.Val147Met | |
| NM_001167579.1:c.439G>A | NP_001161051.1:p.Val147Met | |
| NM_003052.4:c.439G>A | NP_003043.3:p.Val147Met | |
| XM_005265975.1:c.439G>A | XP_005266032.1:p.Val147Met | |
| XR_941112.1:n.486G>A | ||
| XR_941113.1:n.486G>A | ||
| XM_017009773.2:c.439G>A | XP_016865262.1:p.Val147Met | |
| XM_017009775.2:c.439G>A | XP_016865264.1:p.Val147Met | |
| XM_024446191.1:c.439G>A | XP_024301959.1:p.Val147Met | |
| XR_941112.2:n.540G>A | ||
| XR_941113.2:n.540G>A | ||
| NM_003052.5:c.439G>A MANE Select | NP_003043.3:p.Val147Met | |
| NM_001167579.2:c.439G>A | NP_001161051.1:p.Val147Met |