Linked Data
gnomAD v4:
12-114674587-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674587C>G , CM000674.2:g.114674587C>G | GRCh38 |
| NC_000012.11:g.115112392C>G , CM000674.1:g.115112392C>G | GRCh37 |
| NC_000012.10:g.113596775C>G | NCBI36 |
| NG_008315.1:g.14578G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1288G>C MANE Select | ENSP00000257567.2:p.Gly430Arg | |
| ENST00000257566.7:c.1348G>C | ENSP00000257566.3:p.Gly450Arg | |
| ENST00000349155.6:c.1288G>C | ENSP00000257567.2:p.Gly430Arg | |
| ENST00000613550.1:c.1288G>C | ENSP00000480048.1:p.Gly430Arg | |
| NM_005996.3:c.1288G>C | NP_005987.3:p.Gly430Arg | |
| NM_016569.3:c.1348G>C | NP_057653.3:p.Gly450Arg | |
| NM_005996.4:c.1288G>C MANE Select | NP_005987.3:p.Gly430Arg | |
| NM_016569.4:c.1348G>C | NP_057653.3:p.Gly450Arg |