Linked Data
ClinVar Variation Id:
412483
dbSNP Id:
rs1060503765
gnomAD v2:
1-17371308-C-G
gnomAD v3:
1-17044813-C-G
gnomAD v4:
1-17044813-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044813C>G , CM000663.2:g.17044813C>G | GRCh38 |
| NC_000001.10:g.17371308C>G , CM000663.1:g.17371308C>G | GRCh37 |
| NC_000001.9:g.17243895C>G | NCBI36 |
| NG_012340.1:g.14358G>C , LRG_316:g.14358G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-24G>C | ENSP00000481376.2:n.-24G>C | |
| ENST00000491274.6:c.106G>C | ENSP00000480482.2:p.Asp36His | |
| ENST00000375499.8:c.148G>C MANE Select | ENSP00000364649.3:p.Asp50His | |
| ENST00000375499.7:c.148G>C | ENSP00000364649.3:p.Asp50His | |
| ENST00000463045.2:c.-24G>C | ENSP00000481376.1:n.-24G>C | |
| ENST00000466613.2:n.160G>C | ||
| ENST00000475506.1:n.65G>C | ||
| ENST00000485515.5:n.136G>C | ||
| ENST00000491274.5:c.106G>C | ENSP00000480482.1:p.Asp36His | |
| NM_003000.2:c.148G>C , LRG_316t1:c.148G>C | NP_002991.2:p.Asp50His | |
| NM_003000.3:c.148G>C MANE Select | NP_002991.2:p.Asp50His |