Linked Data
ClinVar Variation Id:
195797
ClinVar RCV Id:
RCV000192652
RCV000276428
RCV000331539
RCV000371033
RCV000356751
RCV000713115
RCV001083289
RCV004537399
dbSNP Id:
rs202106192
ExAC:
17:62018952 C / T
gnomAD v2:
17-62018952-C-T
gnomAD v3:
17-63941592-C-T
gnomAD v4:
17-63941592-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941592C>T , CM000679.2:g.63941592C>T | GRCh38 |
| NC_000017.10:g.62018952C>T , CM000679.1:g.62018952C>T | GRCh37 |
| NC_000017.9:g.59372684C>T | NCBI36 |
| NG_011699.1:g.36327G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4690G>A MANE Select | ENSP00000396320.1:p.Val1564Ile | |
| ENST00000578147.5:c.4690G>A | ENSP00000463963.1:p.Val1564Ile | |
| NM_000334.4:c.4690G>A MANE Select | NP_000325.4:p.Val1564Ile | |
| XM_005257566.3:c.4690G>A | XP_005257623.1:p.Val1564Ile |