Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87284767T>C , CM000668.2:g.87284767T>C | GRCh38 |
| NC_000006.11:g.87994485T>C , CM000668.1:g.87994485T>C | GRCh37 |
| NC_000006.10:g.88051204T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198568.3:c.146A>G MANE Select | NP_940970.1:p.Lys49Arg |
| ENST00000525899.6:c.146A>G MANE Select | ENSP00000435355.1:p.Lys49Arg |
| NM_198568.2:c.146A>G | NP_940970.1:p.Lys49Arg |
| ENST00000296882.3:c.146A>G | ENSP00000296882.3:p.Lys49Arg |
| ENST00000369576.2:c.146A>G | ENSP00000358589.2:p.Lys49Arg |
| ENST00000525899.5:c.146A>G | ENSP00000435355.1:p.Lys49Arg |
| XM_005248716.2:c.146A>G | XP_005248773.1:p.Lys49Arg |