Linked Data
ClinVar Variation Id:
161588
ClinVar RCV Id:
RCV000149124
dbSNP Id:
rs193920754
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56098868G>C , CM000674.2:g.56098868G>C | GRCh38 |
| NC_000012.11:g.56492652G>C , CM000674.1:g.56492652G>C | GRCh37 |
| NC_000012.10:g.54778919G>C | NCBI36 |
| NG_011529.1:g.23761G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682431.1:n.4288G>C | ||
| ENST00000682512.1:n.1143G>C | ||
| ENST00000683018.1:c.2625G>C | ENSP00000506822.1:p.Gln875His | |
| ENST00000683059.1:c.2625G>C | ENSP00000507402.1:p.Gln875His | |
| ENST00000683142.1:n.406G>C | ||
| ENST00000683164.1:c.2625G>C | ENSP00000508051.1:p.Gln875His | |
| ENST00000683653.1:n.3535G>C | ||
| ENST00000684500.1:n.3843G>C | ||
| ENST00000684766.1:n.1414-780G>C | ||
| ENST00000267101.8:c.2802G>C MANE Select | ENSP00000267101.4:p.Gln934His | |
| ENST00000267101.7:c.2802G>C | ENSP00000267101.3:p.Gln934His | |
| ENST00000415288.6:c.2625G>C | ENSP00000408340.2:p.Gln875His | |
| ENST00000548709.1:n.439G>C | ||
| ENST00000549832.1:c.162G>C | ENSP00000448729.1:p.Gln54His | |
| ENST00000550070.6:c.723G>C | ENSP00000448946.2:p.Gln241His | |
| ENST00000551085.5:c.*219G>C | ENSP00000448483.1:n.*219G>C | |
| ENST00000551242.5:c.989-1314G>C | ENSP00000447510.1:n.989-1314G>C | |
| ENST00000553131.5:c.525G>C | ENSP00000449129.1:p.Gln175His | |
| NM_001982.3:c.2802G>C | NP_001973.2:p.Gln934His | |
| NM_001982.4:c.2802G>C MANE Select | NP_001973.2:p.Gln934His |