Linked Data
dbSNP Id:
rs73617535
ExAC:
6:151936704 C / T
gnomAD v2:
6-151936704-C-T
gnomAD v3:
6-151615569-C-T
gnomAD v4:
6-151615569-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151615569C>T , CM000668.2:g.151615569C>T | GRCh38 |
| NC_000006.11:g.151936704C>T , CM000668.1:g.151936704C>T | GRCh37 |
| NC_000006.10:g.151978397C>T | NCBI36 |
| NG_021198.1:g.126530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1837C>T MANE Select | ENSP00000239374.6:p.His613Tyr | |
| ENST00000239374.7:c.1837C>T | ENSP00000239374.6:p.His613Tyr | |
| NM_025059.3:c.1837C>T | NP_079335.2:p.His613Tyr | |
| XM_011536147.1:c.1855C>T | XP_011534449.1:p.His619Tyr | |
| XM_011536148.1:c.1654C>T | XP_011534450.1:p.His552Tyr | |
| XM_011536147.2:c.1855C>T | XP_011534449.1:p.His619Tyr | |
| XM_011536148.2:c.1654C>T | XP_011534450.1:p.His552Tyr | |
| XR_001743865.1:n.129+1152G>A | ||
| NM_025059.4:c.1837C>T MANE Select | NP_079335.2:p.His613Tyr |