Linked Data
ClinVar Variation Id:
56033
ClinVar RCV Id:
RCV000049442
dbSNP Id:
rs386833514
PubMed:
PMID:19172541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48982918A>C , CM000664.2:g.48982918A>C | GRCh38 |
| NC_000002.11:g.49210057A>C , CM000664.1:g.49210057A>C | GRCh37 |
| NC_000002.10:g.49063561A>C | NCBI36 |
| NG_008146.1:g.176574T>G , LRG_536:g.176574T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406846.7:c.662T>G MANE Select | ENSP00000384708.2:p.Val221Gly | |
| ENST00000304421.8:c.584T>G | ENSP00000306780.4:p.Val195Gly | |
| ENST00000406846.6:c.662T>G | ENSP00000384708.2:p.Val221Gly | |
| ENST00000454032.5:c.662T>G | ENSP00000415504.1:p.Val221Gly | |
| ENST00000469138.5:n.423T>G | ||
| NM_000145.3:c.662T>G , LRG_536t1:c.662T>G | NP_000136.2:p.Val221Gly | |
| NM_181446.2:c.584T>G | NP_852111.2:p.Val195Gly | |
| XM_011532733.1:c.662T>G | XP_011531035.1:p.Val221Gly | |
| XM_011532734.1:c.329T>G | XP_011531036.1:p.Val110Gly | |
| XM_011532735.1:c.-233T>G | XP_011531037.1:n.-233T>G | |
| XM_011532736.1:c.-131T>G | XP_011531038.1:n.-131T>G | |
| XM_011532737.1:c.662T>G | XP_011531039.1:p.Val221Gly | |
| XM_011532738.1:c.662T>G | XP_011531040.1:p.Val221Gly | |
| XM_011532739.1:c.662T>G | XP_011531041.1:p.Val221Gly | |
| XM_011532740.1:c.662T>G | XP_011531042.1:p.Val221Gly | |
| XM_011532733.2:c.662T>G | XP_011531035.1:p.Val221Gly | |
| XM_011532734.2:c.329T>G | XP_011531036.1:p.Val110Gly | |
| XM_011532735.2:c.-233T>G | XP_011531037.1:n.-233T>G | |
| XM_011532736.2:c.-131T>G | XP_011531038.1:n.-131T>G | |
| NM_000145.4:c.662T>G MANE Select | NP_000136.2:p.Val221Gly | |
| NM_181446.3:c.584T>G | NP_852111.2:p.Val195Gly |