Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49482469G>A , CM000682.2:g.49482469G>A | GRCh38 |
| NC_000020.10:g.48099006G>A , CM000682.1:g.48099006G>A | GRCh37 |
| NC_000020.9:g.47532413G>A | NCBI36 |
| NG_041781.1:g.5176C>T | |
| NG_041781.2:g.5176C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004975.4:c.12C>T MANE Select | NP_004966.1:p.Gly4= |
| ENST00000371741.6:c.12C>T MANE Select | ENSP00000360806.3:p.Gly4= |
| NM_004975.2:c.12C>T | NP_004966.1:p.Gly4= |
| NM_004975.3:c.12C>T | NP_004966.1:p.Gly4= |
| ENST00000371741.5:c.12C>T | ENSP00000360806.3:p.Gly4= |
| ENST00000635465.1:c.12C>T | ENSP00000489193.1:p.Gly4= |
| XM_006723784.2:c.12C>T | XP_006723847.1:p.Gly4= |
| XM_006723784.3:c.12C>T | XP_006723847.1:p.Gly4= |
| XM_011528799.1:c.12C>T | XP_011527101.1:p.Gly4= |
| XM_011528799.2:c.12C>T | XP_011527101.1:p.Gly4= |