Linked Data
ClinVar Variation Id:
3634
ClinVar RCV Id:
RCV000003819
dbSNP Id:
rs119469013
gnomAD v2:
17-56350895-C-T
gnomAD v3:
17-58273534-C-T
gnomAD v4:
17-58273534-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273534C>T , CM000679.2:g.58273534C>T | GRCh38 |
| NC_000017.10:g.56350895C>T , CM000679.1:g.56350895C>T | GRCh37 |
| NC_000017.9:g.53705894C>T | NCBI36 |
| NG_009629.1:g.12402G>A , LRG_84:g.12402G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.834G>A | ||
| ENST00000699291.1:c.626G>A | ENSP00000514272.1:n.626G>A | |
| ENST00000699292.1:n.541G>A | ||
| ENST00000225275.4:c.1501G>A MANE Select | ENSP00000225275.3:p.Gly501Ser | |
| ENST00000225275.3:c.1501G>A | ENSP00000225275.3:p.Gly501Ser | |
| NM_000250.1:c.1501G>A , LRG_84t1:c.1501G>A | NP_000241.1:p.Gly501Ser | |
| XM_011524821.1:c.1687G>A | XP_011523123.1:p.Gly563Ser | |
| XM_011524822.1:c.1216G>A | XP_011523124.1:p.Gly406Ser | |
| XM_011524823.1:c.*50G>A | XP_011523125.1:n.*50G>A | |
| NM_000250.2:c.1501G>A MANE Select | NP_000241.1:p.Gly501Ser |