Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764519T>G , CM000674.2:g.57764519T>G | GRCh38 |
| NC_000012.11:g.58158302T>G , CM000674.1:g.58158302T>G | GRCh37 |
| NC_000012.10:g.56444569T>G | NCBI36 |
| NG_007076.1:g.7675A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1076A>C | ENSP00000518840.1:p.Glu359Ala | |
| ENST00000713545.1:c.1053A>C | ENSP00000518841.1:p.Ter351Cys | |
| ENST00000228606.9:c.995A>C MANE Select | ENSP00000228606.4:p.Glu332Ala | |
| ENST00000228606.8:c.995A>C | ENSP00000228606.4:p.Glu332Ala | |
| ENST00000546567.5:c.290A>C | ENSP00000449472.1:p.Glu97Ala | |
| ENST00000547344.5:n.1134A>C | ||
| NM_000785.3:c.995A>C | NP_000776.1:p.Glu332Ala | |
| NM_000785.4:c.995A>C MANE Select | NP_000776.1:p.Glu332Ala |