Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119285555G>T , CM000673.2:g.119285555G>T | GRCh38 |
| NC_000011.9:g.119156265G>T , CM000673.1:g.119156265G>T | GRCh37 |
| NC_000011.8:g.118661475G>T | NCBI36 |
| NG_016808.1:g.84276G>T , LRG_608:g.84276G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005188.4:c.1930G>T MANE Select | NP_005179.2:p.Asp644Tyr |
| ENST00000264033.6:c.1930G>T MANE Select | ENSP00000264033.3:p.Asp644Tyr |
| NM_005188.3:c.1930G>T , LRG_608t1:c.1930G>T | NP_005179.2:p.Asp644Tyr |
| ENST00000264033.5:c.1930G>T | ENSP00000264033.3:p.Asp644Tyr |
| ENST00000634586.1:c.1930G>T | ENSP00000489218.1:p.Asp644Tyr |
| ENST00000634840.1:c.1798G>T | ENSP00000489324.1:p.Asp600Tyr |
| ENST00000637974.1:c.1924G>T | ENSP00000490763.1:p.Asp642Tyr |
| ENST00000700472.1:c.*1382G>T | ENSP00000515005.1:n.*1382G>T |