Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21042578G>A , CM000680.2:g.21042578G>A | GRCh38 |
| NC_000018.9:g.18622539G>A , CM000680.1:g.18622539G>A | GRCh37 |
| NC_000018.8:g.16876537G>A | NCBI36 |
| NG_042178.2:g.74274C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005406.3:c.807C>T MANE Select | NP_005397.1:p.Tyr269= |
| ENST00000399799.3:c.807C>T MANE Select | ENSP00000382697.1:p.Tyr269= |
| NM_005406.2:c.807C>T | NP_005397.1:p.Tyr269= |
| ENST00000399799.2:c.807C>T | ENSP00000382697.1:p.Tyr269= |
| ENST00000635540.1:c.807C>T | ENSP00000489185.1:p.Tyr269= |
| ENST00000635540.2:c.807C>T | ENSP00000489185.1:p.Tyr269= |
| XM_011526136.1:c.807C>T | XP_011524438.1:p.Tyr269= |