Linked Data
ClinVar Variation Id:
213331
dbSNP Id:
rs140313460
ExAC:
5:127653916 C / T
gnomAD v2:
5-127653916-C-T
gnomAD v3:
5-128318224-C-T
gnomAD v4:
5-128318224-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128318224C>T , CM000667.2:g.128318224C>T | GRCh38 |
| NC_000005.9:g.127653916C>T , CM000667.1:g.127653916C>T | GRCh37 |
| NC_000005.8:g.127681815C>T | NCBI36 |
| NG_008750.1:g.224820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1426G>A | ||
| ENST00000703785.1:n.1507G>A | ||
| ENST00000262464.9:c.4642G>A MANE Select | ENSP00000262464.4:p.Val1548Ile | |
| ENST00000262464.8:c.4642G>A | ENSP00000262464.4:p.Val1548Ile | |
| ENST00000508053.5:c.4642G>A | ENSP00000424571.1:p.Val1548Ile | |
| ENST00000619499.4:c.4639G>A | ENSP00000482132.1:p.Val1547Ile | |
| NM_001999.3:c.4642G>A | NP_001990.2:p.Val1548Ile | |
| XM_017009228.2:c.4489G>A | XP_016864717.1:p.Val1497Ile | |
| NM_001999.4:c.4642G>A MANE Select | NP_001990.2:p.Val1548Ile |