Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150467312A>G , CM000669.2:g.150467312A>G | GRCh38 |
| NC_000007.13:g.150164400A>G , CM000669.1:g.150164400A>G | GRCh37 |
| NC_000007.12:g.149795333A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307271.4:c.614A>G MANE Select | ENSP00000305107.3:p.Lys205Arg | |
| ENST00000307271.3:c.614A>G | ENSP00000305107.3:p.Lys205Arg | |
| NM_175571.3:c.614A>G | NP_783161.1:p.Lys205Arg | |
| XM_005249950.3:c.614A>G | XP_005250007.1:p.Lys205Arg | |
| XM_005249951.2:c.614A>G | XP_005250008.1:p.Lys205Arg | |
| XM_005249950.4:c.614A>G | XP_005250007.1:p.Lys205Arg | |
| XM_005249951.4:c.614A>G | XP_005250008.1:p.Lys205Arg | |
| NM_175571.4:c.614A>G MANE Select | NP_783161.1:p.Lys205Arg |