Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.140567934C>G , CM000666.2:g.140567934C>G | GRCh38 |
| NC_000004.11:g.141489088C>G , CM000666.1:g.141489088C>G | GRCh37 |
| NC_000004.10:g.141708538C>G | NCBI36 |
| NG_012139.1:g.5872G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021833.5:c.170G>C MANE Select | NP_068605.1:p.Gly57Ala |
| ENST00000262999.4:c.170G>C MANE Select | ENSP00000262999.3:p.Gly57Ala |
| NM_021833.4:c.170G>C | NP_068605.1:p.Gly57Ala |
| ENST00000262999.3:c.170G>C | ENSP00000262999.3:p.Gly57Ala |
| XM_005263206.2:c.170G>C | XP_005263263.1:p.Gly57Ala |
| XM_005263206.3:c.170G>C | XP_005263263.1:p.Gly57Ala |
| XM_011532228.1:c.170G>C | XP_011530530.1:p.Gly57Ala |
| XM_011532228.2:c.170G>C | XP_011530530.1:p.Gly57Ala |