Linked Data
dbSNP Id:
rs1273170766
gnomAD v2:
1-115220020-C-T
gnomAD v3:
1-114677399-C-T
gnomAD v4:
1-114677399-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677399C>T , CM000663.2:g.114677399C>T | GRCh38 |
| NC_000001.10:g.115220020C>T , CM000663.1:g.115220020C>T | GRCh37 |
| NC_000001.9:g.115021543C>T | NCBI36 |
| NG_008012.1:g.23157G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1328G>A | ENSP00000358551.4:p.Arg443His | |
| ENST00000520113.7:c.1340G>A MANE Select | ENSP00000430075.3:p.Arg447His | |
| ENST00000637080.1:c.1123G>A | ENSP00000489753.1:n.1123G>A | |
| ENST00000639077.1:n.1005G>A | ||
| ENST00000369538.3:c.1427G>A | ENSP00000358551.3:p.Arg476His | |
| ENST00000520113.6:c.1439G>A | ENSP00000430075.2:p.Arg480His | |
| NM_000036.2:c.1439G>A | NP_000027.2:p.Arg480His | |
| NM_001172626.1:c.1427G>A | NP_001166097.1:p.Arg476His | |
| NM_000036.3:c.1340G>A MANE Select | NP_000027.3:p.Arg447His | |
| NM_001172626.2:c.1328G>A | NP_001166097.2:p.Arg443His |