Linked Data
dbSNP Id:
rs752416873
ExAC:
17:61555445 G / A
gnomAD v2:
17-61555445-G-A
gnomAD v3:
17-63478084-G-A
gnomAD v4:
17-63478084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63478084G>A , CM000679.2:g.63478084G>A | GRCh38 |
| NC_000017.10:g.61555445G>A , CM000679.1:g.61555445G>A | GRCh37 |
| NC_000017.9:g.58909177G>A | NCBI36 |
| NG_011648.1:g.6012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.403G>A MANE Select | ENSP00000290866.4:p.Ala135Thr | |
| ENST00000290866.9:c.403G>A | ENSP00000290866.4:p.Ala135Thr | |
| ENST00000428043.5:c.403G>A | ENSP00000397593.2:p.Ala135Thr | |
| ENST00000579462.1:n.428G>A | ||
| ENST00000580318.1:n.592G>A | ||
| ENST00000582627.1:c.403G>A | ENSP00000462280.1:p.Ala135Thr | |
| ENST00000582678.5:c.403G>A | ENSP00000462995.1:p.Ala135Thr | |
| ENST00000583336.5:n.437G>A | ||
| ENST00000584529.5:n.437G>A | ||
| NM_000789.3:c.403G>A | NP_000780.1:p.Ala135Thr | |
| XM_005257110.1:c.-53G>A | XP_005257167.1:n.-53G>A | |
| NM_000789.4:c.403G>A MANE Select | NP_000780.1:p.Ala135Thr | |
| NM_001382700.1:c.168G>A | NP_001369629.1:p.Trp56Ter | |
| NM_001382701.1:c.-212G>A | NP_001369630.1:n.-212G>A |