Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95966442A>G , CM000674.2:g.95966442A>G | GRCh38 |
| NC_000012.11:g.96360220A>G , CM000674.1:g.96360220A>G | GRCh37 |
| NC_000012.10:g.94884351A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152435.3:c.1127A>G MANE Select | NP_689648.2:p.Lys376Arg |
| ENST00000266736.7:c.1127A>G MANE Select | ENSP00000266736.2:p.Lys376Arg |
| NM_152435.2:c.1127A>G | NP_689648.2:p.Lys376Arg |
| ENST00000266736.6:c.1127A>G | ENSP00000266736.2:p.Lys376Arg |
| ENST00000548310.1:c.941A>G | |
| XM_024448847.1:c.800A>G | XP_024304615.1:p.Lys267Arg |