Linked Data
ClinVar Variation Id:
191181
dbSNP Id:
rs763295314
gnomAD v3:
3-101291499-A-C
gnomAD v4:
3-101291499-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101291499A>C , CM000665.2:g.101291499A>C | GRCh38 |
| NC_000003.11:g.101010343A>C , CM000665.1:g.101010343A>C | GRCh37 |
| NC_000003.10:g.102493033A>C | NCBI36 |
| NG_028284.1:g.34077T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.513T>G MANE Select | ENSP00000193391.6:p.Tyr171Ter | |
| ENST00000193391.7:c.513T>G | ENSP00000193391.6:p.Tyr171Ter | |
| NM_016247.3:c.513T>G | NP_057331.2:p.Tyr171Ter | |
| XM_011512871.1:c.219T>G | XP_011511173.1:p.Tyr73Ter | |
| XM_011512872.1:c.102T>G | XP_011511174.1:p.Tyr34Ter | |
| NM_016247.4:c.513T>G MANE Select | NP_057331.2:p.Tyr171Ter |