Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29917532T>C , CM000685.2:g.29917532T>C | GRCh38 |
| NC_000023.10:g.29935649T>C , CM000685.1:g.29935649T>C | GRCh37 |
| NC_000023.9:g.29845570T>C | NCBI36 |
| NG_008292.1:g.1334969T>C | |
| NG_008292.2:g.1334969T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.847T>C MANE Select | ENSP00000368278.1:p.Trp283Arg | |
| ENST00000302196.5:c.70T>C | ENSP00000305200.5:p.Trp24Arg | |
| ENST00000378993.5:c.847T>C | ENSP00000368278.1:p.Trp283Arg | |
| NM_014271.3:c.847T>C | NP_055086.1:p.Trp283Arg | |
| XM_005274441.1:c.847T>C | XP_005274498.1:p.Trp283Arg | |
| XM_011545445.1:c.847T>C | XP_011543747.1:p.Trp283Arg | |
| XM_017029240.1:c.847T>C | XP_016884729.1:p.Trp283Arg | |
| XM_017029241.1:c.469T>C | XP_016884730.1:p.Trp157Arg | |
| NM_014271.4:c.847T>C MANE Select | NP_055086.1:p.Trp283Arg |