Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89438899G>A , CM000672.2:g.89438899G>A | GRCh38 |
| NC_000010.10:g.91198656G>A , CM000672.1:g.91198656G>A | GRCh37 |
| NC_000010.9:g.91188636G>A | NCBI36 |
| NG_021179.1:g.101658C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371790.5:c.733C>T MANE Select | ENSP00000360855.4:p.Gln245Ter | |
| ENST00000371790.4:c.733C>T | ENSP00000360855.4:p.Gln245Ter | |
| NM_213606.3:c.733C>T | NP_998771.3:p.Gln245Ter | |
| XM_017016237.2:c.733C>T | XP_016871726.1:p.Gln245Ter | |
| XM_017016238.1:c.733C>T | XP_016871727.1:p.Gln245Ter | |
| XM_017016239.1:c.733C>T | XP_016871728.1:p.Gln245Ter | |
| XM_024447994.1:c.733C>T | XP_024303762.1:p.Gln245Ter | |
| NM_213606.4:c.733C>T MANE Select | NP_998771.3:p.Gln245Ter |