Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965914A>G , CM000681.2:g.48965914A>G | GRCh38 |
| NC_000019.9:g.49469171A>G , CM000681.1:g.49469171A>G | GRCh37 |
| NC_000019.8:g.54160983A>G | NCBI36 |
| NG_008152.1:g.5606A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.247A>G MANE Select | NP_000137.2:p.Lys83Glu |
| ENST00000331825.11:c.247A>G MANE Select | ENSP00000366525.2:p.Lys83Glu |
| NM_000146.3:c.247A>G | NP_000137.2:p.Lys83Glu |
| ENST00000331825.10:c.247A>G | ENSP00000366525.2:p.Lys83Glu |
| ENST00000622577.2:c.247A>G | ENSP00000484043.1:p.Lys83Glu |
| XM_024451447.1:c.757A>G | XP_024307215.1:p.Lys253Glu |