Linked Data
dbSNP Id:
rs773276395
ExAC:
2:31754495 A / T
gnomAD v2:
2-31754495-A-T
gnomAD v4:
2-31529425-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529425A>T , CM000664.2:g.31529425A>T | GRCh38 |
| NC_000002.11:g.31754495A>T , CM000664.1:g.31754495A>T | GRCh37 |
| NC_000002.10:g.31607999A>T | NCBI36 |
| NG_008365.1:g.56547T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.580T>A MANE Select | ENSP00000477587.1:p.Phe194Ile | |
| ENST00000622030.1:c.580T>A | ENSP00000477587.1:p.Phe194Ile | |
| NM_000348.3:c.580T>A | NP_000339.2:p.Phe194Ile | |
| XM_011533069.1:c.358T>A | XP_011531371.1:p.Phe120Ile | |
| XM_011533070.1:c.325T>A | XP_011531372.1:p.Phe109Ile | |
| XM_011533071.1:c.325T>A | XP_011531373.1:p.Phe109Ile | |
| XM_011533072.1:c.325T>A | XP_011531374.1:p.Phe109Ile | |
| XM_011533069.2:c.358T>A | XP_011531371.1:p.Phe120Ile | |
| XM_011533072.2:c.325T>A | XP_011531374.1:p.Phe109Ile | |
| NM_000348.4:c.580T>A MANE Select | NP_000339.2:p.Phe194Ile |