Linked Data
ClinVar Variation Id:
102850
dbSNP Id:
rs199475692
ExAC:
12:103246623 T / C
gnomAD v2:
12-103246623-T-C
gnomAD v4:
12-102852845-T-C
ERepo:
CA286508/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852845T>C , CM000674.2:g.102852845T>C | GRCh38 |
| NC_000012.11:g.103246623T>C , CM000674.1:g.103246623T>C | GRCh37 |
| NC_000012.10:g.101770753T>C | NCBI36 |
| NG_008690.1:g.69758A>G | |
| NG_008690.2:g.110566A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.812A>G MANE Select | ENSP00000448059.1:p.His271Arg | |
| ENST00000307000.7:c.797A>G | ENSP00000303500.2:p.His266Arg | |
| ENST00000549247.6:n.571A>G | ||
| ENST00000553106.5:c.812A>G | ENSP00000448059.1:p.His271Arg | |
| NM_000277.1:c.812A>G | NP_000268.1:p.His271Arg | |
| XM_011538422.1:c.812A>G | XP_011536724.1:p.His271Arg | |
| NM_000277.2:c.812A>G | NP_000268.1:p.His271Arg | |
| NM_001354304.1:c.812A>G | NP_001341233.1:p.His271Arg | |
| NM_000277.3:c.812A>G MANE Select | NP_000268.1:p.His271Arg | |
| NM_001354304.2:c.812A>G | NP_001341233.1:p.His271Arg |