Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31547563T= , CM000668.2:g.31547563T= | GRCh38 |
| NC_000006.11:g.31515340T= , CM000668.1:g.31515340T= | GRCh37 |
| NC_000006.10:g.31623319T= | NCBI36 |
| NG_012344.1:g.5713T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001144962.1:c.-13+590T= (NFKBIL1) | NP_001138434.1:n.-13+590T= |
| NM_001144962.2:c.-13+590T= (NFKBIL1) | NP_001138434.1:n.-13+590T= |
| NM_001144963.1:c.-13+590T= (NFKBIL1) | NP_001138435.1:n.-13+590T= |
| NM_001144963.2:c.-13+590T= (NFKBIL1) | NP_001138435.1:n.-13+590T= |
| ENST00000376146.8:c.-13+590T= (NFKBIL1) | ENSP00000365316.4:n.-13+590T= |
| ENST00000415099.2:c.202+663A= (ATP6V1G2) | ENSP00000390148.2:n.202+663A= |