Linked Data
ClinVar Variation Id:
531144
ClinVar RCV Id:
RCV000637254
dbSNP Id:
rs769395669
ExAC:
9:101056132 C / T
gnomAD v2:
9-101056132-C-T
gnomAD v3:
9-98293850-C-T
gnomAD v4:
9-98293850-C-T
COSMIC:
COSM4686080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98293850C>T , CM000671.2:g.98293850C>T | GRCh38 |
| NC_000009.11:g.101056132C>T , CM000671.1:g.101056132C>T | GRCh37 |
| NC_000009.10:g.100095953C>T | NCBI36 |
| NG_016426.1:g.420348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.2595G>A MANE Select | ENSP00000259455.2:p.Gln865= | |
| ENST00000637410.1:n.2373G>A | ||
| ENST00000259455.3:c.2595G>A | ENSP00000259455.2:p.Gln865= | |
| NM_005458.7:c.2595G>A | NP_005449.5:p.Gln865= | |
| XM_005252316.3:c.1821G>A | XP_005252373.1:p.Gln607= | |
| XM_005252316.5:c.1821G>A | XP_005252373.1:p.Gln607= | |
| XM_017015331.2:c.2301G>A | XP_016870820.1:p.Gln767= | |
| XM_017015332.2:c.1821G>A | XP_016870821.1:p.Gln607= | |
| NM_005458.8:c.2595G>A MANE Select | NP_005449.5:p.Gln865= |