Linked Data
dbSNP Id:
rs535752872
ExAC:
12:103238199 A / T
gnomAD v2:
12-103238199-A-T
gnomAD v3:
12-102844421-A-T
gnomAD v4:
12-102844421-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844421A>T , CM000674.2:g.102844421A>T | GRCh38 |
| NC_000012.11:g.103238199A>T , CM000674.1:g.103238199A>T | GRCh37 |
| NC_000012.10:g.101762329A>T | NCBI36 |
| NG_008690.1:g.78182T>A | |
| NG_008690.2:g.118990T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.980T>A MANE Select | ENSP00000448059.1:p.Phe327Tyr | |
| ENST00000307000.7:c.965T>A | ENSP00000303500.2:p.Phe322Tyr | |
| ENST00000549247.6:n.739T>A | ||
| ENST00000551114.2:n.642T>A | ||
| ENST00000553106.5:c.980T>A | ENSP00000448059.1:p.Phe327Tyr | |
| ENST00000635477.1:c.84T>A | ||
| ENST00000635528.1:n.495T>A | ||
| NM_000277.1:c.980T>A | NP_000268.1:p.Phe327Tyr | |
| XM_011538422.1:c.923T>A | XP_011536724.1:p.Phe308Tyr | |
| NM_000277.2:c.980T>A | NP_000268.1:p.Phe327Tyr | |
| NM_001354304.1:c.980T>A | NP_001341233.1:p.Phe327Tyr | |
| NM_000277.3:c.980T>A MANE Select | NP_000268.1:p.Phe327Tyr | |
| NM_001354304.2:c.980T>A | NP_001341233.1:p.Phe327Tyr |