Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562848G>T , CM000682.2:g.57562848G>T | GRCh38 |
| NC_000020.10:g.56137904G>T , CM000682.1:g.56137904G>T | GRCh37 |
| NC_000020.9:g.55571310G>T | NCBI36 |
| NG_008205.1:g.6768G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.559G>T MANE Select | ENSP00000319814.4:p.Gly187Trp | |
| ENST00000319441.5:c.559G>T | ENSP00000319814.4:p.Gly187Trp | |
| ENST00000467047.1:n.1769G>T | ||
| ENST00000470051.1:n.15G>T | ||
| ENST00000498194.1:n.501G>T | ||
| NM_002591.3:c.559G>T | NP_002582.3:p.Gly187Trp | |
| XM_011528839.1:c.163G>T | XP_011527141.1:p.Gly55Trp | |
| XM_024451888.1:c.163G>T | XP_024307656.1:p.Gly55Trp | |
| NM_002591.4:c.559G>T MANE Select | NP_002582.3:p.Gly187Trp |