Linked Data
ClinVar Variation Id:
120287
ClinVar RCV Id:
RCV000106368
dbSNP Id:
rs199475692
ERepo:
CA267675/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852845T>A , CM000674.2:g.102852845T>A | GRCh38 |
| NC_000012.11:g.103246623T>A , CM000674.1:g.103246623T>A | GRCh37 |
| NC_000012.10:g.101770753T>A | NCBI36 |
| NG_008690.1:g.69758A>T | |
| NG_008690.2:g.110566A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.812A>T MANE Select | ENSP00000448059.1:p.His271Leu | |
| ENST00000307000.7:c.797A>T | ENSP00000303500.2:p.His266Leu | |
| ENST00000549247.6:n.571A>T | ||
| ENST00000553106.5:c.812A>T | ENSP00000448059.1:p.His271Leu | |
| NM_000277.1:c.812A>T | NP_000268.1:p.His271Leu | |
| XM_011538422.1:c.812A>T | XP_011536724.1:p.His271Leu | |
| NM_000277.2:c.812A>T | NP_000268.1:p.His271Leu | |
| NM_001354304.1:c.812A>T | NP_001341233.1:p.His271Leu | |
| NM_000277.3:c.812A>T MANE Select | NP_000268.1:p.His271Leu | |
| NM_001354304.2:c.812A>T | NP_001341233.1:p.His271Leu |