Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753525A= , CM000674.2:g.101753525A= | GRCh38 |
| NC_000012.11:g.102147303A= , CM000674.1:g.102147303A= | GRCh37 |
| NC_000012.10:g.100671434A= | NCBI36 |
| NG_021243.1:g.82343T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024312.5:c.3449T= MANE Select | NP_077288.2:p.Leu1150= |
| ENST00000299314.12:c.3449T= MANE Select | ENSP00000299314.7:p.Leu1150= |
| NM_024312.4:c.3449T= | NP_077288.2:p.Leu1150= |
| ENST00000299314.11:c.3449T= | ENSP00000299314.7:p.Leu1150= |
| ENST00000549738.5:c.347T= | ENSP00000450161.1:n.347T= |
| XM_011538731.1:c.3368T= | XP_011537033.1:p.Leu1123= |
| XM_011538731.2:c.3368T= | XP_011537033.1:p.Leu1123= |
| XM_017019961.1:c.3233T= | XP_016875450.1:p.Leu1078= |
| XM_017019962.2:c.2222T= | XP_016875451.1:p.Leu741= |