Linked Data
ClinVar Variation Id:
324538
ClinVar RCV Id:
RCV000264468
RCV000270508
RCV000324372
RCV000378934
RCV000517866
RCV000654684
RCV003409512
dbSNP Id:
rs201199086
ExAC:
17:62038745 G / A
gnomAD v2:
17-62038745-G-A
gnomAD v3:
17-63961385-G-A
gnomAD v4:
17-63961385-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63961385G>A , CM000679.2:g.63961385G>A | GRCh38 |
| NC_000017.10:g.62038745G>A , CM000679.1:g.62038745G>A | GRCh37 |
| NC_000017.9:g.59392477G>A | NCBI36 |
| NG_011699.1:g.16534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1653C>T MANE Select | ENSP00000396320.1:p.Cys551= | |
| ENST00000578147.5:c.1653C>T | ENSP00000463963.1:p.Cys551= | |
| ENST00000581514.1:n.309C>T | ||
| NM_000334.4:c.1653C>T MANE Select | NP_000325.4:p.Cys551= | |
| XM_005257566.3:c.1653C>T | XP_005257623.1:p.Cys551= | |
| XR_934910.1:n.124+663G>A | ||
| XR_001752969.1:n.1276+663G>A | ||
| XR_934910.2:n.1276+663G>A |