Linked Data
ClinVar Variation Id:
376115
ClinVar RCV Id:
RCV000428873
dbSNP Id:
rs201283129
COSMIC:
COSM1717471
PubMed:
PMID:18397343
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17838329C>G , CM000681.2:g.17838329C>G | GRCh38 |
| NC_000019.9:g.17949138C>G , CM000681.1:g.17949138C>G | GRCh37 |
| NC_000019.8:g.17810138C>G | NCBI36 |
| NG_007273.1:g.14663G>C , LRG_77:g.14663G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*60G>C | ENSP00000513006.1:n.*60G>C | |
| ENST00000696967.1:n.680G>C | ||
| ENST00000696970.1:n.158G>C | ||
| ENST00000458235.7:c.1503G>C MANE Select | ENSP00000391676.1:p.Gln501His | |
| ENST00000458235.5:c.1503G>C | ENSP00000391676.1:p.Gln501His | |
| ENST00000526008.5:n.1717G>C | ||
| ENST00000527031.5:n.1593G>C | ||
| ENST00000527670.5:c.1503G>C | ENSP00000432511.1:p.Gln501His | |
| ENST00000534444.1:c.1503G>C | ENSP00000436421.1:p.Gln501His | |
| NM_000215.3:c.1503G>C , LRG_77t1:c.1503G>C | NP_000206.2:p.Gln501His | |
| XM_005259896.2:c.1632G>C | XP_005259953.1:p.Gln544His | |
| XM_006722745.2:c.1503G>C | XP_006722808.1:p.Gln501His | |
| XM_011527990.1:c.1632G>C | XP_011526292.1:p.Gln544His | |
| XM_011527991.1:c.1632G>C | XP_011526293.1:p.Gln544His | |
| XR_430137.2:n.1642G>C | ||
| XM_005259896.3:c.1632G>C | XP_005259953.1:p.Gln544His | |
| XM_011527991.2:c.1632G>C | XP_011526293.1:p.Gln544His | |
| NM_000215.4:c.1503G>C MANE Select | NP_000206.2:p.Gln501His |