Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162268127T= , CM000664.2:g.162268127T= | GRCh38 |
| NC_000002.11:g.163124637T= , CM000664.1:g.163124637T= | GRCh37 |
| NC_000002.10:g.162832883T= | NCBI36 |
| NG_011495.1:g.55403A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022168.4:c.2767A= MANE Select | NP_071451.2:p.Ile923= |
| ENST00000649979.2:c.2767A= MANE Select | ENSP00000497271.1:p.Ile923= |
| NM_022168.3:c.2767A= | NP_071451.2:p.Ile923= |
| ENST00000263642.2:c.2767A= | ENSP00000263642.2:p.Ile923= |
| ENST00000648433.1:c.2650A= | ENSP00000496816.1:p.Ile884= |
| ENST00000649426.1:n.11A= | |
| ENST00000649554.1:n.2377A= | |
| ENST00000679938.1:c.2455A= | ENSP00000505518.1:p.Ile819= |
| ENST00000697291.1:c.*2364A= | ENSP00000513228.1:n.*2364A= |
| XM_011511628.1:c.2050A= | XP_011509930.1:p.Ile684= |