Linked Data
ClinVar Variation Id:
324540
ClinVar RCV Id:
RCV000301623
RCV000358802
RCV000393897
RCV000393899
RCV000486439
RCV000766484
RCV001080027
dbSNP Id:
rs185941768
ExAC:
17:62041176 C / T
gnomAD v2:
17-62041176-C-T
gnomAD v3:
17-63963816-C-T
gnomAD v4:
17-63963816-C-T
PubMed:
PMID:23884711
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63963816C>T , CM000679.2:g.63963816C>T | GRCh38 |
| NC_000017.10:g.62041176C>T , CM000679.1:g.62041176C>T | GRCh37 |
| NC_000017.9:g.59394908C>T | NCBI36 |
| NG_011699.1:g.14103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1462G>A MANE Select | ENSP00000396320.1:p.Ala488Thr | |
| ENST00000578147.5:c.1462G>A | ENSP00000463963.1:p.Ala488Thr | |
| NM_000334.4:c.1462G>A MANE Select | NP_000325.4:p.Ala488Thr | |
| XM_005257566.3:c.1462G>A | XP_005257623.1:p.Ala488Thr | |
| XR_934910.1:n.174+502C>T | ||
| XR_001752969.1:n.1327-268C>T | ||
| XR_001752970.1:n.279-268C>T | ||
| XR_934910.2:n.1326+502C>T |