Linked Data
ClinVar Variation Id:
8082
ClinVar RCV Id:
RCV000008550
dbSNP Id:
rs121434490
PubMed:
PMID:15007136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2674218A>C , CM000679.2:g.2674218A>C | GRCh38 |
| NC_000017.10:g.2577512A>C , CM000679.1:g.2577512A>C | GRCh37 |
| NC_000017.9:g.2524262A>C | NCBI36 |
| NG_009799.1:g.85590A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397195.10:c.830A>C MANE Select | ENSP00000380378.4:p.His277Pro | |
| ENST00000571495.2:n.1915A>C | ||
| ENST00000674608.1:c.884A>C | ENSP00000501976.1:p.His295Pro | |
| ENST00000674717.1:c.635A>C | ENSP00000501931.1:p.His212Pro | |
| ENST00000675202.1:c.830A>C | ENSP00000502843.1:p.His277Pro | |
| ENST00000675331.1:c.830A>C | ENSP00000502031.1:p.His277Pro | |
| ENST00000675390.1:c.830A>C | ENSP00000501969.1:p.His277Pro | |
| ENST00000675574.1:n.1902A>C | ||
| ENST00000675621.1:c.830A>C | ENSP00000502117.1:p.His277Pro | |
| ENST00000675764.1:c.*784A>C | ENSP00000502242.1:n.*784A>C | |
| ENST00000676077.1:c.*148A>C | ENSP00000502507.1:n.*148A>C | |
| ENST00000676098.1:c.830A>C | ENSP00000502735.1:p.His277Pro | |
| ENST00000676188.1:c.830A>C | ENSP00000502577.1:p.His277Pro | |
| ENST00000676353.1:c.635A>C | ENSP00000502737.1:p.His212Pro | |
| ENST00000397193.7:n.638A>C | ||
| ENST00000397195.9:c.830A>C | ENSP00000380378.4:p.His277Pro | |
| ENST00000571495.1:n.554A>C | ||
| ENST00000572915.6:n.676+122A>C | ||
| ENST00000574468.1:c.326A>C | ENSP00000460591.1:p.His109Pro | |
| ENST00000574816.5:n.31-2096A>C | ||
| NM_000430.3:c.830A>C | NP_000421.1:p.His277Pro | |
| XM_011523901.1:c.884A>C | XP_011522203.1:p.His295Pro | |
| XM_011523902.1:c.884A>C | XP_011522204.1:p.His295Pro | |
| XM_011523903.1:c.884A>C | XP_011522205.1:p.His295Pro | |
| XM_011523901.2:c.884A>C | XP_011522203.1:p.His295Pro | |
| XM_011523902.3:c.884A>C | XP_011522204.1:p.His295Pro | |
| XM_011523903.2:c.884A>C | XP_011522205.1:p.His295Pro | |
| XM_017024701.1:c.830A>C | XP_016880190.1:p.His277Pro | |
| XM_017024702.2:c.635A>C | XP_016880191.1:p.His212Pro | |
| NM_000430.4:c.830A>C MANE Select | NP_000421.1:p.His277Pro |