Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142954267G>C , CM000669.2:g.142954267G>C | GRCh38 |
| NC_000007.13:g.142651354G>C , CM000669.1:g.142651354G>C | GRCh37 |
| NC_000007.12:g.142361476G>C | NCBI36 |
| NG_007492.1:g.13150C>G | |
| NG_007492.2:g.13150C>G | |
| NG_007492.3:g.13150C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000420.3:c.841C>G MANE Select | NP_000411.1:p.Arg281Gly |
| ENST00000355265.7:c.841C>G MANE Select | ENSP00000347409.2:p.Arg281Gly |
| NM_000420.2:c.841C>G | NP_000411.1:p.Arg281Gly |
| ENST00000355265.6:c.841C>G | ENSP00000347409.2:p.Arg281Gly |
| ENST00000479768.6:n.959C>G | |
| XM_005249993.2:c.877C>G | XP_005250050.1:p.Arg293Gly |
| XM_005249994.3:c.-107C>G | XP_005250051.1:n.-107C>G |