Linked Data
ClinVar Variation Id:
2337992
dbSNP Id:
rs371454539
ExAC:
4:128565044 T / A
gnomAD v2:
4-128565044-T-A
gnomAD v3:
4-127643889-T-A
gnomAD v4:
4-127643889-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127643889T>A , CM000666.2:g.127643889T>A | GRCh38 |
| NC_000004.11:g.128565044T>A , CM000666.1:g.128565044T>A | GRCh37 |
| NC_000004.10:g.128784494T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335251.11:c.515T>A MANE Select | ENSP00000334003.5:p.Val172Asp | |
| ENST00000335251.10:c.515T>A | ENSP00000334003.5:p.Val172Asp | |
| ENST00000503626.5:c.515T>A | ENSP00000426287.1:p.Val172Asp | |
| ENST00000503952.5:c.515T>A | ENSP00000421995.1:p.Val172Asp | |
| ENST00000504491.1:c.458T>A | ENSP00000422550.1:p.Val153Asp | |
| NM_015693.3:c.515T>A | NP_056508.2:p.Val172Asp | |
| XM_011531844.1:c.515T>A | XP_011530146.1:p.Val172Asp | |
| XM_011531845.1:c.515T>A | XP_011530147.1:p.Val172Asp | |
| XM_011531846.1:c.458T>A | XP_011530148.1:p.Val153Asp | |
| XM_011531849.1:c.515T>A | XP_011530151.1:p.Val172Asp | |
| XM_011531850.1:c.515T>A | XP_011530152.1:p.Val172Asp | |
| XM_011531851.1:c.515T>A | XP_011530153.1:p.Val172Asp | |
| XR_938720.1:n.618T>A | ||
| XM_011531844.3:c.515T>A | XP_011530146.1:p.Val172Asp | |
| XM_011531845.3:c.515T>A | XP_011530147.1:p.Val172Asp | |
| XM_011531849.3:c.515T>A | XP_011530151.1:p.Val172Asp | |
| XM_011531850.3:c.515T>A | XP_011530152.1:p.Val172Asp | |
| XM_011531851.3:c.515T>A | XP_011530153.1:p.Val172Asp | |
| XM_017008026.2:c.515T>A | XP_016863515.1:p.Val172Asp | |
| XR_001741201.1:n.590T>A | ||
| NM_015693.4:c.515T>A MANE Select | NP_056508.2:p.Val172Asp |