Linked Data
ClinVar Variation Id:
8077
ClinVar RCV Id:
RCV000008544
dbSNP Id:
rs121434485
PubMed:
PMID:11502906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2676553G>C , CM000679.2:g.2676553G>C | GRCh38 |
| NC_000017.10:g.2579847G>C , CM000679.1:g.2579847G>C | GRCh37 |
| NC_000017.9:g.2526597G>C | NCBI36 |
| NG_009799.1:g.87925G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397195.10:c.949G>C MANE Select | ENSP00000380378.4:p.Asp317His | |
| ENST00000571495.2:n.2034G>C | ||
| ENST00000674608.1:c.1003G>C | ENSP00000501976.1:p.Asp335His | |
| ENST00000674717.1:c.754G>C | ENSP00000501931.1:p.Asp252His | |
| ENST00000675084.1:n.203G>C | ||
| ENST00000675202.1:c.949G>C | ENSP00000502843.1:p.Asp317His | |
| ENST00000675331.1:c.949G>C | ENSP00000502031.1:p.Asp317His | |
| ENST00000675385.1:n.563G>C | ||
| ENST00000675390.1:c.949G>C | ENSP00000501969.1:p.Asp317His | |
| ENST00000675574.1:n.4004G>C | ||
| ENST00000675621.1:c.949G>C | ENSP00000502117.1:p.Asp317His | |
| ENST00000675764.1:c.*903G>C | ENSP00000502242.1:n.*903G>C | |
| ENST00000676077.1:c.*267G>C | ENSP00000502507.1:n.*267G>C | |
| ENST00000676098.1:c.949G>C | ENSP00000502735.1:p.Asp317His | |
| ENST00000676188.1:c.949G>C | ENSP00000502577.1:p.Asp317His | |
| ENST00000676353.1:c.754G>C | ENSP00000502737.1:p.Asp252His | |
| ENST00000397193.7:n.757G>C | ||
| ENST00000397195.9:c.949G>C | ENSP00000380378.4:p.Asp317His | |
| ENST00000571495.1:n.673G>C | ||
| ENST00000572915.6:n.676+2457G>C | ||
| ENST00000574468.1:c.396+2265G>C | ENSP00000460591.1:n.396+2265G>C | |
| ENST00000574816.5:n.270G>C | ||
| NM_000430.3:c.949G>C | NP_000421.1:p.Asp317His | |
| XM_011523901.1:c.1003G>C | XP_011522203.1:p.Asp335His | |
| XM_011523902.1:c.1003G>C | XP_011522204.1:p.Asp335His | |
| XM_011523903.1:c.1003G>C | XP_011522205.1:p.Asp335His | |
| XM_011523901.2:c.1003G>C | XP_011522203.1:p.Asp335His | |
| XM_011523902.3:c.1003G>C | XP_011522204.1:p.Asp335His | |
| XM_011523903.2:c.1003G>C | XP_011522205.1:p.Asp335His | |
| XM_017024701.1:c.949G>C | XP_016880190.1:p.Asp317His | |
| XM_017024702.2:c.754G>C | XP_016880191.1:p.Asp252His | |
| NM_000430.4:c.949G>C MANE Select | NP_000421.1:p.Asp317His |