Linked Data
gnomAD v4:
12-57763753-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763753T>C , CM000674.2:g.57763753T>C | GRCh38 |
| NC_000012.11:g.58157536T>C , CM000674.1:g.58157536T>C | GRCh37 |
| NC_000012.10:g.56443803T>C | NCBI36 |
| NG_007076.1:g.8441A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1352A>G | ENSP00000518840.1:p.Glu451Gly | |
| ENST00000713545.1:c.*276A>G | ENSP00000518841.1:n.*276A>G | |
| ENST00000228606.9:c.1271A>G MANE Select | ENSP00000228606.4:p.Glu424Gly | |
| ENST00000228606.8:c.1271A>G | ENSP00000228606.4:p.Glu424Gly | |
| ENST00000547344.5:n.1410A>G | ||
| NM_000785.3:c.1271A>G | NP_000776.1:p.Glu424Gly | |
| NM_000785.4:c.1271A>G MANE Select | NP_000776.1:p.Glu424Gly |