Linked Data
dbSNP Id:
rs763471541
gnomAD v2:
17-56351018-G-A
gnomAD v3:
17-58273657-G-A
gnomAD v4:
17-58273657-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273657G>A , CM000679.2:g.58273657G>A | GRCh38 |
| NC_000017.10:g.56351018G>A , CM000679.1:g.56351018G>A | GRCh37 |
| NC_000017.9:g.53706017G>A | NCBI36 |
| NG_009629.1:g.12279C>T , LRG_84:g.12279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.711C>T | ||
| ENST00000699291.1:c.503C>T | ENSP00000514272.1:p.Pro168Leu | |
| ENST00000699292.1:n.418C>T | ||
| ENST00000225275.4:c.1378C>T MANE Select | ENSP00000225275.3:p.Arg460Trp | |
| ENST00000225275.3:c.1378C>T | ENSP00000225275.3:p.Arg460Trp | |
| NM_000250.1:c.1378C>T , LRG_84t1:c.1378C>T | NP_000241.1:p.Arg460Trp | |
| XM_011524821.1:c.1564C>T | XP_011523123.1:p.Arg522Trp | |
| XM_011524822.1:c.1093C>T | XP_011523124.1:p.Arg365Trp | |
| XM_011524823.1:c.1403C>T | XP_011523125.1:p.Pro468Leu | |
| NM_000250.2:c.1378C>T MANE Select | NP_000241.1:p.Arg460Trp |