Linked Data
dbSNP Id:
rs758748280
ExAC:
1:116275552 G / A
gnomAD v2:
1-116275552-G-A
gnomAD v4:
1-115732931-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732931G>A , CM000663.2:g.115732931G>A | GRCh38 |
| NC_000001.10:g.116275552G>A , CM000663.1:g.116275552G>A | GRCh37 |
| NC_000001.9:g.116077075G>A | NCBI36 |
| NG_008802.1:g.40875C>T , LRG_404:g.40875C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.300C>T | ENSP00000518226.1:p.Tyr100= | |
| ENST00000261448.6:c.576C>T MANE Select | ENSP00000261448.5:p.Tyr192= | |
| ENST00000261448.5:c.576C>T | ENSP00000261448.5:p.Tyr192= | |
| NM_001232.3:c.576C>T , LRG_404t1:c.576C>T | NP_001223.2:p.Tyr192= | |
| NM_001232.4:c.576C>T MANE Select | NP_001223.2:p.Tyr192= |