Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12778139T= , CM000686.2:g.12778139T= | GRCh38 |
| NC_000024.9:g.14890073T= , CM000686.1:g.14890073T= | GRCh37 |
| NC_000024.8:g.13399467T= | NCBI36 |
| NG_008311.1:g.81914T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.2760T= | ENSP00000498372.1:p.Ile920= | |
| ENST00000338981.7:c.2760T= MANE Select | ENSP00000342812.3:p.Ile920= | |
| ENST00000426564.6:n.2772T= | ||
| NM_004654.3:c.2760T= | NP_004645.2:p.Ile920= | |
| XM_011531469.1:c.2760T= | XP_011529771.1:p.Ile920= | |
| XM_011531470.1:c.2526T= | XP_011529772.1:p.Ile842= | |
| XM_017030078.2:c.2775T= | XP_016885567.1:p.Ile925= | |
| NM_004654.4:c.2760T= MANE Select | NP_004645.2:p.Ile920= |