Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997029G= , CM000685.2:g.154997029G= | GRCh38 |
| NC_000023.10:g.154225304G= , CM000685.1:g.154225304G= | GRCh37 |
| NC_000023.9:g.153878498G= | NCBI36 |
| NG_011403.1:g.30695C= | |
| NG_011403.2:g.30695C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.332C= MANE Select | ENSP00000353393.4:p.Ala111= | |
| ENST00000647125.1:c.*118C= | ENSP00000496062.1:n.*118C= | |
| ENST00000360256.8:c.332C= | ENSP00000353393.4:p.Ala111= | |
| ENST00000423959.5:c.227C= | ENSP00000409446.1:p.Ala76= | |
| ENST00000453950.1:c.314C= | ENSP00000389153.1:p.Ala105= | |
| NM_000132.3:c.332C= | NP_000123.1:p.Ala111= | |
| XM_011531126.1:c.227C= | XP_011529428.1:p.Ala76= | |
| NM_000132.4:c.332C= MANE Select | NP_000123.1:p.Ala111= |