Linked Data
ClinVar Variation Id:
761624
ClinVar RCV Id:
RCV001406972
dbSNP Id:
rs756392600
ExAC:
9:101304305 C / T
gnomAD v2:
9-101304305-C-T
gnomAD v3:
9-98542023-C-T
gnomAD v4:
9-98542023-C-T
COSMIC:
COSM3665358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542023C>T , CM000671.2:g.98542023C>T | GRCh38 |
| NC_000009.11:g.101304305C>T , CM000671.1:g.101304305C>T | GRCh37 |
| NC_000009.10:g.100344126C>T | NCBI36 |
| NG_016426.1:g.172175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.480G>A MANE Select | ENSP00000259455.2:p.Thr160= | |
| ENST00000637410.1:n.258G>A | ||
| ENST00000637717.1:c.96G>A | ENSP00000490789.1:p.Thr32= | |
| ENST00000638001.1:n.90G>A | ||
| ENST00000259455.3:c.480G>A | ENSP00000259455.2:p.Thr160= | |
| ENST00000477471.1:n.267G>A | ||
| ENST00000634227.1:n.254G>A | ||
| NM_005458.7:c.480G>A | NP_005449.5:p.Thr160= | |
| XM_017015331.2:c.186G>A | XP_016870820.1:p.Thr62= | |
| NM_005458.8:c.480G>A MANE Select | NP_005449.5:p.Thr160= |