Linked Data
ClinVar Variation Id:
161562
ClinVar RCV Id:
RCV000149097
dbSNP Id:
rs193920910
COSMIC:
COSM1180174
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32541717T>G , CM000671.2:g.32541717T>G | GRCh38 |
| NC_000009.11:g.32541715T>G , CM000671.1:g.32541715T>G | GRCh37 |
| NC_000009.10:g.32531715T>G | NCBI36 |
| NG_017050.1:g.15908A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.2808A>C MANE Select | ENSP00000353735.2:p.Gln936His | |
| ENST00000680198.1:c.198+9057A>C | ENSP00000505143.1:n.198+9057A>C | |
| ENST00000681750.1:c.-45+9057A>C | ENSP00000506413.1:n.-45+9057A>C | |
| ENST00000360538.6:c.2808A>C | ENSP00000353735.2:p.Gln936His | |
| ENST00000379858.1:c.2613A>C | ENSP00000369187.1:p.Gln871His | |
| NM_001195622.1:c.2613A>C | NP_001182551.1:p.Gln871His | |
| NM_005802.4:c.2808A>C | NP_005793.2:p.Gln936His | |
| NM_005802.5:c.2808A>C MANE Select | NP_005793.2:p.Gln936His | |
| NM_001195622.2:c.2613A>C | NP_001182551.1:p.Gln871His |