Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.170106382A>G , CM000667.2:g.170106382A>G | GRCh38 |
| NC_000005.9:g.169533386A>G , CM000667.1:g.169533386A>G | GRCh37 |
| NC_000005.8:g.169465964A>G | NCBI36 |
| NG_012068.1:g.5470A>G | |
| NG_012068.2:g.5470A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012188.5:c.425A>G MANE Select | NP_036320.2:p.Lys142Arg |
| ENST00000306268.8:c.425A>G MANE Select | ENSP00000304286.5:p.Lys142Arg |
| NM_012188.4:c.425A>G | NP_036320.2:p.Lys142Arg |
| NM_144769.2:c.425A>G | NP_658982.1:p.Lys142Arg |
| NM_144769.3:c.425A>G | NP_658982.1:p.Lys142Arg |
| NM_144769.4:c.425A>G | NP_658982.1:p.Lys142Arg |
| ENST00000306268.6:c.425A>G | ENSP00000304286.5:p.Lys142Arg |
| ENST00000449804.3:c.425A>G | ENSP00000415483.2:p.Lys142Arg |
| ENST00000449804.4:c.425A>G | ENSP00000415483.2:p.Lys142Arg |
| XR_941092.1:n.486A>G |