Linked Data
ClinVar Variation Id:
194606
dbSNP Id:
rs1046974
ExAC:
2:234255547 G / A
gnomAD v2:
2-234255547-G-A
gnomAD v3:
2-233346901-G-A
gnomAD v4:
2-233346901-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233346901G>A , CM000664.2:g.233346901G>A | GRCh38 |
| NC_000002.11:g.234255547G>A , CM000664.1:g.234255547G>A | GRCh37 |
| NC_000002.10:g.233920286G>A | NCBI36 |
| NG_009116.1:g.44239G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409110.6:c.1207G>A MANE Select | ENSP00000386444.1:p.Val403Ile | |
| ENST00000409110.5:c.1207G>A | ENSP00000386444.1:p.Val403Ile | |
| ENST00000412969.6:n.2427G>A | ||
| ENST00000471884.5:n.3238G>A | ||
| ENST00000474220.5:n.413G>A | ||
| ENST00000476500.5:n.6506G>A | ||
| ENST00000492629.1:n.168G>A | ||
| NM_000541.4:c.1207G>A | NP_000532.2:p.Val403Ile | |
| XM_011511589.1:c.1207G>A | XP_011509891.1:p.Val403Ile | |
| XM_011511590.1:c.1207G>A | XP_011509892.1:p.Val403Ile | |
| XM_011511591.1:c.*75G>A | XP_011509893.1:n.*75G>A | |
| XM_011511592.1:c.1051G>A | XP_011509894.1:p.Val351Ile | |
| XM_011511593.1:c.907G>A | XP_011509895.1:p.Val303Ile | |
| XM_011511594.1:c.835G>A | XP_011509896.1:p.Val279Ile | |
| XM_011511596.1:c.805G>A | XP_011509898.1:p.Val269Ile | |
| XM_011511597.1:c.805G>A | XP_011509899.1:p.Val269Ile | |
| XR_922978.1:n.1524G>A | ||
| XR_922980.1:n.1623G>A | ||
| XM_011511593.3:c.907G>A | XP_011509895.1:p.Val303Ile | |
| XM_017004641.1:c.*75G>A | XP_016860130.1:n.*75G>A | |
| XM_024453036.1:c.*75G>A | XP_024308804.1:n.*75G>A | |
| XR_001738882.1:n.1405G>A | ||
| XR_922980.2:n.1623G>A | ||
| NM_000541.5:c.1207G>A MANE Select | NP_000532.2:p.Val403Ile |