Linked Data
dbSNP Id:
rs1248698034
gnomAD v2:
17-56350955-A-T
gnomAD v3:
17-58273594-A-T
gnomAD v4:
17-58273594-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273594A>T , CM000679.2:g.58273594A>T | GRCh38 |
| NC_000017.10:g.56350955A>T , CM000679.1:g.56350955A>T | GRCh37 |
| NC_000017.9:g.53705954A>T | NCBI36 |
| NG_009629.1:g.12342T>A , LRG_84:g.12342T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.774T>A | ||
| ENST00000699291.1:c.566T>A | ENSP00000514272.1:p.Phe189Tyr | |
| ENST00000699292.1:n.481T>A | ||
| ENST00000225275.4:c.1441T>A MANE Select | ENSP00000225275.3:p.Ser481Thr | |
| ENST00000225275.3:c.1441T>A | ENSP00000225275.3:p.Ser481Thr | |
| NM_000250.1:c.1441T>A , LRG_84t1:c.1441T>A | NP_000241.1:p.Ser481Thr | |
| XM_011524821.1:c.1627T>A | XP_011523123.1:p.Ser543Thr | |
| XM_011524822.1:c.1156T>A | XP_011523124.1:p.Ser386Thr | |
| XM_011524823.1:c.1466T>A | XP_011523125.1:p.Phe489Tyr | |
| NM_000250.2:c.1441T>A MANE Select | NP_000241.1:p.Ser481Thr |