Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34856871G>C , CM000668.2:g.34856871G>C | GRCh38 |
| NC_000006.11:g.34824648G>C , CM000668.1:g.34824648G>C | GRCh37 |
| NC_000006.10:g.34932626G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000192788.6:c.1373G>C MANE Select | ENSP00000192788.5:p.Trp458Ser | |
| ENST00000192788.5:c.1373G>C | ENSP00000192788.5:p.Trp458Ser | |
| ENST00000452449.6:c.1373G>C | ENSP00000400628.2:p.Trp458Ser | |
| NM_017754.3:c.1373G>C | NP_060224.3:p.Trp458Ser | |
| XM_005249199.3:c.215G>C | XP_005249256.1:p.Trp72Ser | |
| XM_006715126.2:c.1373G>C | XP_006715189.1:p.Trp458Ser | |
| XM_011514714.1:c.1286G>C | XP_011513016.1:p.Trp429Ser | |
| XM_011514715.1:c.377G>C | XP_011513017.1:p.Trp126Ser | |
| NM_017754.4:c.1373G>C MANE Select | NP_060224.3:p.Trp458Ser |