Linked Data
dbSNP Id:
rs370268538
ExAC:
9:80919852 T / G
gnomAD v2:
9-80919852-T-G
gnomAD v4:
9-78304936-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304936T>G , CM000671.2:g.78304936T>G | GRCh38 |
| NC_000009.11:g.80919852T>G , CM000671.1:g.80919852T>G | GRCh37 |
| NC_000009.10:g.80109672T>G | NCBI36 |
| NG_012165.1:g.12794T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.393T>G MANE Select | ENSP00000365773.3:p.Tyr131Ter | |
| ENST00000347159.6:c.393T>G | ENSP00000317606.2:p.Tyr131Ter | |
| ENST00000376588.3:c.393T>G | ENSP00000365773.3:p.Tyr131Ter | |
| NM_021154.4:c.393T>G | NP_066977.1:p.Tyr131Ter | |
| NM_058179.3:c.393T>G | NP_478059.1:p.Tyr131Ter | |
| NM_058179.4:c.393T>G MANE Select | NP_478059.1:p.Tyr131Ter | |
| NM_021154.5:c.393T>G | NP_066977.1:p.Tyr131Ter |