Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123393624C>T , CM000668.2:g.123393624C>T | GRCh38 |
| NC_000006.11:g.123714769C>T , CM000668.1:g.123714769C>T | GRCh37 |
| NC_000006.10:g.123756468C>T | NCBI36 |
| NG_030438.1:g.248470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334268.9:c.1105G>A MANE Select | ENSP00000333984.5:p.Ala369Thr | |
| ENST00000662930.1:c.1108G>A | ENSP00000499585.1:p.Ala370Thr | |
| ENST00000334268.8:c.1105G>A | ENSP00000333984.5:p.Ala369Thr | |
| NM_001251987.1:c.1108G>A | NP_001238916.1:p.Ala370Thr | |
| NM_006073.3:c.1105G>A | NP_006064.2:p.Ala369Thr | |
| XM_011535382.1:c.1105G>A | XP_011533684.1:p.Ala369Thr | |
| NM_006073.4:c.1105G>A MANE Select | NP_006064.2:p.Ala369Thr | |
| NM_001251987.2:c.1108G>A | NP_001238916.1:p.Ala370Thr |