Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31531408G= , CM000664.2:g.31531408G= | GRCh38 |
| NC_000002.11:g.31756478G= , CM000664.1:g.31756478G= | GRCh37 |
| NC_000002.10:g.31609982G= | NCBI36 |
| NG_008365.1:g.54564C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.510C= MANE Select | ENSP00000477587.1:p.Leu170= | |
| ENST00000622030.1:c.510C= | ENSP00000477587.1:p.Leu170= | |
| NM_000348.3:c.510C= | NP_000339.2:p.Leu170= | |
| XM_011533069.1:c.288C= | XP_011531371.1:p.Leu96= | |
| XM_011533070.1:c.255C= | XP_011531372.1:p.Leu85= | |
| XM_011533071.1:c.255C= | XP_011531373.1:p.Leu85= | |
| XM_011533072.1:c.255C= | XP_011531374.1:p.Leu85= | |
| XM_011533069.2:c.288C= | XP_011531371.1:p.Leu96= | |
| XM_011533072.2:c.255C= | XP_011531374.1:p.Leu85= | |
| NM_000348.4:c.510C= MANE Select | NP_000339.2:p.Leu170= |