Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31531371C= , CM000664.2:g.31531371C= | GRCh38 |
| NC_000002.11:g.31756441C= , CM000664.1:g.31756441C= | GRCh37 |
| NC_000002.10:g.31609945C= | NCBI36 |
| NG_008365.1:g.54601G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000348.4:c.547G= MANE Select | NP_000339.2:p.Gly183= |
| ENST00000622030.2:c.547G= MANE Select | ENSP00000477587.1:p.Gly183= |
| NM_000348.3:c.547G= | NP_000339.2:p.Gly183= |
| ENST00000622030.1:c.547G= | ENSP00000477587.1:p.Gly183= |
| XM_011533069.1:c.325G= | XP_011531371.1:p.Gly109= |
| XM_011533069.2:c.325G= | XP_011531371.1:p.Gly109= |
| XM_011533070.1:c.292G= | XP_011531372.1:p.Gly98= |
| XM_011533071.1:c.292G= | XP_011531373.1:p.Gly98= |
| XM_011533072.1:c.292G= | XP_011531374.1:p.Gly98= |
| XM_011533072.2:c.292G= | XP_011531374.1:p.Gly98= |