Linked Data
ClinVar Variation Id:
346048
dbSNP Id:
rs201849628
ExAC:
3:50230789 G / A
gnomAD v2:
3-50230789-G-A
gnomAD v3:
3-50193356-G-A
gnomAD v4:
3-50193356-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50193356G>A , CM000665.2:g.50193356G>A | GRCh38 |
| NC_000003.11:g.50230789G>A , CM000665.1:g.50230789G>A | GRCh37 |
| NC_000003.10:g.50205793G>A | NCBI36 |
| NG_009831.1:g.6747G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232461.8:c.241G>A MANE Select | ENSP00000232461.3:p.Val81Ile | |
| ENST00000232461.7:c.241G>A | ENSP00000232461.3:p.Val81Ile | |
| ENST00000433068.5:c.241G>A | ENSP00000387555.1:p.Val81Ile | |
| ENST00000440836.1:c.97G>A | ENSP00000403537.1:p.Val33Ile | |
| NM_000172.3:c.241G>A | NP_000163.2:p.Val81Ile | |
| NM_144499.2:c.241G>A | NP_653082.1:p.Val81Ile | |
| XM_011533595.1:c.97G>A | XP_011531897.1:p.Val33Ile | |
| XM_011533596.1:c.97G>A | XP_011531898.1:p.Val33Ile | |
| XR_940416.1:n.521G>A | ||
| NM_000172.4:c.241G>A | NP_000163.2:p.Val81Ile | |
| NM_144499.3:c.241G>A MANE Select | NP_653082.1:p.Val81Ile |