Linked Data
ClinVar Variation Id:
11952
ClinVar RCV Id:
RCV003581564
dbSNP Id:
rs121965002
PubMed:
PMID:14742428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100196349T>C , CM000663.2:g.100196349T>C | GRCh38 |
| NC_000001.10:g.100661905T>C , CM000663.1:g.100661905T>C | GRCh37 |
| NC_000001.9:g.100434493T>C | NCBI36 |
| NG_011852.2:g.58505A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681617.1:c.1481A>G | ENSP00000505544.1:p.His494Arg | |
| ENST00000681780.1:c.812A>G | ENSP00000505780.1:p.His271Arg | |
| ENST00000370132.8:c.1355A>G MANE Select | ENSP00000359151.3:p.His452Arg | |
| NM_001918.3:c.1355A>G | NP_001909.3:p.His452Arg | |
| XM_005270545.2:c.812A>G | XP_005270602.1:p.His271Arg | |
| XM_005270546.2:c.812A>G | XP_005270603.1:p.His271Arg | |
| XM_005270545.4:c.812A>G | XP_005270602.1:p.His271Arg | |
| XM_017000468.2:c.812A>G | XP_016855957.1:p.His271Arg | |
| XM_017000469.2:c.812A>G | XP_016855958.1:p.His271Arg | |
| NM_001918.4:c.1355A>G | NP_001909.3:p.His452Arg | |
| NM_001918.5:c.1355A>G MANE Select | NP_001909.4:p.His452Arg | |
| NM_001399969.1:c.812A>G | NP_001386898.1:p.His271Arg | |
| NM_001399972.1:c.812A>G | NP_001386901.1:p.His271Arg | |
| NR_174363.1:n.1187A>G | ||
| NR_174364.1:n.1528A>G | ||
| NR_174365.1:n.1152A>G | ||
| NR_174366.1:n.1454A>G |