Linked Data
dbSNP Id:
rs760870324
ExAC:
8:97172581 T / A
gnomAD v2:
8-97172581-T-A
gnomAD v4:
8-96160353-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96160353T>A , CM000670.2:g.96160353T>A | GRCh38 |
| NC_000008.10:g.97172581T>A , CM000670.1:g.97172581T>A | GRCh37 |
| NC_000008.9:g.97241757T>A | NCBI36 |
| NG_008981.1:g.5440A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.340A>T MANE Select | ENSP00000287020.4:p.Asn114Tyr | |
| ENST00000287020.6:c.340A>T | ENSP00000287020.4:p.Asn114Tyr | |
| ENST00000620978.1:c.340A>T | ENSP00000480170.1:p.Asn114Tyr | |
| ENST00000621429.1:c.340A>T | ENSP00000483711.1:p.Asn114Tyr | |
| NM_001001557.2:c.340A>T | NP_001001557.1:p.Asn114Tyr | |
| NM_001001557.3:c.340A>T | NP_001001557.1:p.Asn114Tyr | |
| NM_001001557.4:c.340A>T MANE Select | NP_001001557.1:p.Asn114Tyr |