Linked Data
ClinVar Variation Id:
324517
ClinVar RCV Id:
RCV000313533
RCV000344057
RCV000368322
RCV000392378
RCV000405474
RCV002502255
RCV003137925
dbSNP Id:
rs774452124
ExAC:
17:62019318 C / T
gnomAD v2:
17-62019318-C-T
gnomAD v3:
17-63941958-C-T
gnomAD v4:
17-63941958-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941958C>T , CM000679.2:g.63941958C>T | GRCh38 |
| NC_000017.10:g.62019318C>T , CM000679.1:g.62019318C>T | GRCh37 |
| NC_000017.9:g.59373050C>T | NCBI36 |
| NG_011699.1:g.35961G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435607.3:c.4324G>A MANE Select | ENSP00000396320.1:p.Val1442Met | |
| ENST00000578147.5:c.4324G>A | ENSP00000463963.1:p.Val1442Met | |
| NM_000334.4:c.4324G>A MANE Select | NP_000325.4:p.Val1442Met | |
| XM_005257566.3:c.4324G>A | XP_005257623.1:p.Val1442Met |