Linked Data
ClinVar Variation Id:
1395430
ClinVar RCV Id:
RCV001901166
dbSNP Id:
rs771932392
ExAC:
9:132576472 G / A
gnomAD v2:
9-132576472-G-A
gnomAD v3:
9-129814193-G-A
gnomAD v4:
9-129814193-G-A
COSMIC:
COSM1230086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814193G>A , CM000671.2:g.129814193G>A | GRCh38 |
| NC_000009.11:g.132576472G>A , CM000671.1:g.132576472G>A | GRCh37 |
| NC_000009.10:g.131616293G>A | NCBI36 |
| NG_008049.1:g.14970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.778C>T MANE Select | ENSP00000345719.4:p.Arg260Trp | |
| ENST00000651202.1:c.*46C>T | ENSP00000498222.1:n.*46C>T | |
| ENST00000351698.4:c.778C>T | ENSP00000345719.4:p.Arg260Trp | |
| ENST00000474192.1:n.362C>T | ||
| NM_000113.2:c.778C>T | NP_000104.1:p.Arg260Trp | |
| XR_929731.1:n.1105C>T | ||
| XR_929731.3:n.973C>T | ||
| NM_000113.3:c.778C>T MANE Select | NP_000104.1:p.Arg260Trp |