Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814095A= , CM000671.2:g.129814095A= | GRCh38 |
| NC_000009.11:g.132576374A= , CM000671.1:g.132576374A= | GRCh37 |
| NC_000009.10:g.131616195A= | NCBI36 |
| NG_008049.1:g.15068T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.876T= MANE Select | ENSP00000345719.4:p.Ile292= | |
| ENST00000651202.1:c.*144T= | ENSP00000498222.1:n.*144T= | |
| ENST00000351698.4:c.876T= | ENSP00000345719.4:p.Ile292= | |
| ENST00000474192.1:n.460T= | ||
| NM_000113.2:c.876T= | NP_000104.1:p.Ile292= | |
| XR_929731.1:n.1203T= | ||
| XR_929731.3:n.1071T= | ||
| NM_000113.3:c.876T= MANE Select | NP_000104.1:p.Ile292= |