Linked Data
dbSNP Id:
rs556008576
ExAC:
17:38028541 A / T
gnomAD v2:
17-38028541-A-T
gnomAD v3:
17-39872288-A-T
gnomAD v4:
17-39872288-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39872288A>T , CM000679.2:g.39872288A>T | GRCh38 |
| NC_000017.10:g.38028541A>T , CM000679.1:g.38028541A>T | GRCh37 |
| NC_000017.9:g.35282067A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348931.9:c.425A>T MANE Select | ENSP00000335384.5:p.Tyr142Phe | |
| ENST00000348931.8:c.425A>T | ENSP00000335384.5:p.Tyr142Phe | |
| ENST00000377940.3:c.359A>T | ENSP00000367174.3:p.Tyr120Phe | |
| ENST00000583811.5:c.71A>T | ENSP00000462463.1:p.Tyr24Phe | |
| ENST00000584588.5:c.406+663A>T | ENSP00000462067.1:n.406+663A>T | |
| NM_198844.2:c.359A>T | NP_942141.2:p.Tyr120Phe | |
| NM_199321.2:c.425A>T | NP_955353.1:p.Tyr142Phe | |
| XM_011524298.1:c.425A>T | XP_011522600.1:p.Tyr142Phe | |
| XR_002957959.1:n.616A>T | ||
| NM_198844.3:c.359A>T | NP_942141.2:p.Tyr120Phe | |
| NM_199321.3:c.425A>T MANE Select | NP_955353.1:p.Tyr142Phe |