Linked Data
ClinVar Variation Id:
2578075
ClinVar RCV Id:
RCV003325674
dbSNP Id:
rs1360415315
gnomAD v2:
7-44189371-C-G
gnomAD v4:
7-44149772-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44149772C>G , CM000669.2:g.44149772C>G | GRCh38 |
| NC_000007.13:g.44189371C>G , CM000669.1:g.44189371C>G | GRCh37 |
| NC_000007.12:g.44155896C>G | NCBI36 |
| NG_008847.1:g.44652G>C | |
| NG_008847.2:g.53399G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*665G>C | ENSP00000379142.4:n.*665G>C | |
| ENST00000616242.5:c.667G>C | ENSP00000482149.2:p.Gly223Arg | |
| ENST00000682635.1:n.1153G>C | ||
| ENST00000345378.7:c.670G>C | ENSP00000223366.2:p.Gly224Arg | |
| ENST00000403799.8:c.667G>C MANE Select | ENSP00000384247.3:p.Gly223Arg | |
| ENST00000671824.1:c.667G>C | ENSP00000500264.1:p.Gly223Arg | |
| ENST00000673284.1:c.667G>C | ENSP00000499852.1:p.Gly223Arg | |
| ENST00000345378.6:c.670G>C | ENSP00000223366.2:p.Gly224Arg | |
| ENST00000395796.7:c.664G>C | ENSP00000379142.3:p.Gly222Arg | |
| ENST00000403799.7:c.667G>C | ENSP00000384247.3:p.Gly223Arg | |
| ENST00000437084.1:c.616G>C | ENSP00000402840.1:p.Gly206Arg | |
| ENST00000616242.4:c.664G>C | ENSP00000482149.1:p.Gly222Arg | |
| NM_000162.3:c.667G>C | NP_000153.1:p.Gly223Arg | |
| NM_033507.1:c.670G>C | NP_277042.1:p.Gly224Arg | |
| NM_033508.1:c.664G>C | NP_277043.1:p.Gly222Arg | |
| XR_927223.1:n.287C>G | ||
| NM_000162.4:c.667G>C | NP_000153.1:p.Gly223Arg | |
| NM_001354800.1:c.667G>C | NP_001341729.1:p.Gly223Arg | |
| NM_033507.2:c.670G>C | NP_277042.1:p.Gly224Arg | |
| NM_033508.2:c.664G>C | NP_277043.1:p.Gly222Arg | |
| XR_927223.2:n.287C>G | ||
| NM_000162.5:c.667G>C MANE Select | NP_000153.1:p.Gly223Arg | |
| NM_033507.3:c.670G>C | NP_277042.1:p.Gly224Arg | |
| NM_033508.3:c.664G>C | NP_277043.1:p.Gly222Arg |