Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40285988T>C , CM000663.2:g.40285988T>C | GRCh38 |
| NC_000001.10:g.40751660T>C , CM000663.1:g.40751660T>C | GRCh37 |
| NC_000001.9:g.40524247T>C | NCBI36 |
| NG_008695.1:g.32928T>C , LRG_212:g.32928T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372759.4:c.1018T>C MANE Select | ENSP00000361845.3:p.Trp340Arg | |
| ENST00000674703.1:c.*859T>C | ENSP00000501674.1:n.*859T>C | |
| ENST00000675754.1:c.*760T>C | ENSP00000502555.1:n.*760T>C | |
| ENST00000675937.1:c.*263T>C | ENSP00000502683.1:n.*263T>C | |
| ENST00000372759.3:c.1018T>C | ENSP00000361845.3:p.Trp340Arg | |
| NM_005857.4:c.1018T>C | NP_005848.2:p.Trp340Arg | |
| XM_011540486.1:c.769T>C | XP_011538788.1:p.Trp257Arg | |
| XR_001736906.2:n.1405T>C | ||
| NM_005857.5:c.1018T>C MANE Select | NP_005848.2:p.Trp340Arg |