Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966655A= , CM000685.2:g.154966655A= | GRCh38 |
| NC_000023.10:g.154194930A= , CM000685.1:g.154194930A= | GRCh37 |
| NC_000023.9:g.153848124A= | NCBI36 |
| NG_011403.1:g.61069T= | |
| NG_011403.2:g.61069T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1042T= MANE Select | ENSP00000353393.4:p.Cys348= | |
| ENST00000647125.1:c.*918T= | ENSP00000496062.1:n.*918T= | |
| ENST00000360256.8:c.1042T= | ENSP00000353393.4:p.Cys348= | |
| NM_000132.3:c.1042T= | NP_000123.1:p.Cys348= | |
| XM_011531126.1:c.937T= | XP_011529428.1:p.Cys313= | |
| NM_000132.4:c.1042T= MANE Select | NP_000123.1:p.Cys348= |