Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144416618C= , CM000670.2:g.144416618C= | GRCh38 |
| NC_000008.10:g.145642002C= , CM000670.1:g.145642002C= | GRCh37 |
| NC_000008.9:g.145612810C= | NCBI36 |
| NG_012234.2:g.5273G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_130849.4:c.172G= MANE Select | NP_570901.3:p.Ala58= |
| ENST00000301305.8:c.172G= MANE Select | ENSP00000301305.4:p.Ala58= |
| NM_001374839.1:c.172G= | NP_001361768.1:p.Ala58= |
| NM_130849.3:c.172G= | NP_570901.2:p.Ala58= |
| ENST00000301305.7:c.172G= | ENSP00000301305.3:p.Ala58= |
| ENST00000526658.1:c.172G= | ENSP00000434512.1:p.Ala58= |
| XM_006716599.1:c.172G= | XP_006716662.1:p.Ala58= |
| XM_011517153.1:c.172G= | XP_011515455.1:p.Ala58= |
| XM_024447188.1:c.172G= | XP_024302956.1:p.Ala58= |
| XM_024447189.1:c.172G= | XP_024302957.1:p.Ala58= |