Linked Data
dbSNP Id:
rs760495497
ExAC:
4:46995438 C / T
gnomAD v2:
4-46995438-C-T
gnomAD v4:
4-46993421-C-T
COSMIC:
COSM1055691
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46993421C>T , CM000666.2:g.46993421C>T | GRCh38 |
| NC_000004.11:g.46995438C>T , CM000666.1:g.46995438C>T | GRCh37 |
| NC_000004.10:g.46690195C>T | NCBI36 |
| NG_011809.1:g.5143G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.4G>A MANE Select | ENSP00000264318.3:p.Val2Ile | |
| ENST00000264318.3:c.4G>A | ENSP00000264318.3:p.Val2Ile | |
| ENST00000502874.1:c.4G>A | ENSP00000424386.1:p.Val2Ile | |
| ENST00000508560.5:c.4G>A | ENSP00000425445.1:p.Val2Ile | |
| ENST00000509316.1:n.128G>A | ||
| ENST00000511523.5:c.4G>A | ENSP00000422152.1:p.Val2Ile | |
| NM_000809.3:c.4G>A | NP_000800.2:p.Val2Ile | |
| NM_001204266.1:c.15G>A | NP_001191195.1:p.Trp5Ter | |
| NM_001204267.1:c.15G>A | NP_001191196.1:p.Trp5Ter | |
| XM_011513677.1:c.4G>A | XP_011511979.1:p.Val2Ile | |
| NM_000809.4:c.4G>A MANE Select | NP_000800.2:p.Val2Ile | |
| NM_001204266.2:c.15G>A | NP_001191195.1:p.Trp5Ter | |
| NM_001204267.2:c.15G>A | NP_001191196.1:p.Trp5Ter |