Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23413527G>A , CM000678.2:g.23413527G>A | GRCh38 |
| NC_000016.9:g.23424848G>A , CM000678.1:g.23424848G>A | GRCh37 |
| NC_000016.8:g.23332349G>A | NCBI36 |
| NG_021287.1:g.44665C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153603.4:c.1330C>T MANE Select | NP_705831.1:p.Arg444Ter |
| ENST00000307149.10:c.1330C>T MANE Select | ENSP00000305442.5:p.Arg444Ter |
| NM_153603.3:c.1330C>T | NP_705831.1:p.Arg444Ter |
| ENST00000307149.9:c.1330C>T | ENSP00000305442.5:p.Arg444Ter |
| ENST00000567821.1:n.365C>T | |
| XM_017023870.1:c.1135C>T | XP_016879359.1:p.Arg379Ter |
| XR_002957852.1:n.1551C>T | |
| XR_429680.1:n.1546C>T | |
| XR_429680.2:n.1551C>T |