Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46601457A>C , CM000680.2:g.46601457A>C | GRCh38 |
| NC_000018.9:g.44181420A>C , CM000680.1:g.44181420A>C | GRCh37 |
| NC_000018.8:g.42435418A>C | NCBI36 |
| NG_016646.1:g.60577T>G | |
| NG_016646.2:g.60577T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001384474.1:c.894T>G MANE Select | NP_001371403.1:p.Tyr298Ter |
| ENST00000642948.1:c.894T>G MANE Select | ENSP00000496347.1:p.Tyr298Ter |
| NM_144612.6:c.894T>G | NP_653213.6:p.Tyr298Ter |
| NM_144612.7:c.894T>G | NP_653213.6:p.Tyr298Ter |
| ENST00000335730.6:n.207T>G | |
| ENST00000441551.6:c.894T>G | ENSP00000387621.2:p.Tyr298Ter |
| ENST00000536736.5:c.894T>G | ENSP00000444586.1:p.Tyr298Ter |
| XM_011525803.1:c.894T>G | XP_011524105.1:p.Tyr298Ter |
| XM_017025548.1:c.894T>G | XP_016881037.1:p.Tyr298Ter |