Linked Data
ClinVar Variation Id:
2278742
ClinVar RCV Id:
RCV004133367
dbSNP Id:
rs756572859
ExAC:
17:56350925 C / T
gnomAD v2:
17-56350925-C-T
gnomAD v3:
17-58273564-C-T
gnomAD v4:
17-58273564-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273564C>T , CM000679.2:g.58273564C>T | GRCh38 |
| NC_000017.10:g.56350925C>T , CM000679.1:g.56350925C>T | GRCh37 |
| NC_000017.9:g.53705924C>T | NCBI36 |
| NG_009629.1:g.12372G>A , LRG_84:g.12372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.804G>A | ||
| ENST00000699291.1:c.596G>A | ENSP00000514272.1:n.596G>A | |
| ENST00000699292.1:n.511G>A | ||
| ENST00000225275.4:c.1471G>A MANE Select | ENSP00000225275.3:p.Ala491Thr | |
| ENST00000225275.3:c.1471G>A | ENSP00000225275.3:p.Ala491Thr | |
| NM_000250.1:c.1471G>A , LRG_84t1:c.1471G>A | NP_000241.1:p.Ala491Thr | |
| XM_011524821.1:c.1657G>A | XP_011523123.1:p.Ala553Thr | |
| XM_011524822.1:c.1186G>A | XP_011523124.1:p.Ala396Thr | |
| XM_011524823.1:c.*20G>A | XP_011523125.1:n.*20G>A | |
| NM_000250.2:c.1471G>A MANE Select | NP_000241.1:p.Ala491Thr |