Linked Data
ClinVar Variation Id:
324532
ClinVar RCV Id:
RCV000269404
RCV000304604
RCV000329154
RCV000363907
RCV000393740
RCV001660671
RCV004544584
dbSNP Id:
rs200354336
ExAC:
17:62029045 G / A
gnomAD v2:
17-62029045-G-A
gnomAD v3:
17-63951685-G-A
gnomAD v4:
17-63951685-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63951685G>A , CM000679.2:g.63951685G>A | GRCh38 |
| NC_000017.10:g.62029045G>A , CM000679.1:g.62029045G>A | GRCh37 |
| NC_000017.9:g.59382777G>A | NCBI36 |
| NG_011699.1:g.26234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.2592C>T MANE Select | ENSP00000396320.1:p.Ala864= | |
| ENST00000578147.5:c.2592C>T | ENSP00000463963.1:p.Ala864= | |
| NM_000334.4:c.2592C>T MANE Select | NP_000325.4:p.Ala864= | |
| XM_005257566.3:c.2592C>T | XP_005257623.1:p.Ala864= |