Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17818178A= , CM000681.2:g.17818178A= | GRCh38 |
| NC_000019.9:g.17928987A= , CM000681.1:g.17928987A= | GRCh37 |
| NC_000019.8:g.17789987A= | NCBI36 |
| NG_012092.1:g.8334T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005543.4:c.191-1119T= MANE Select | NP_005534.2:n.191-1119T= |
| ENST00000317306.8:c.191-1119T= MANE Select | ENSP00000321724.6:n.191-1119T= |
| NM_001265587.1:c.286-1119T= | NP_001252516.1:n.286-1119T= |
| NM_001265587.2:c.286-1119T= | NP_001252516.1:n.286-1119T= |
| NM_005543.3:c.191-1119T= | NP_005534.2:n.191-1119T= |
| ENST00000317306.7:c.191-1119T= | ENSP00000321724.6:n.191-1119T= |
| ENST00000379695.5:c.286-1119T= | ENSP00000369017.4:n.286-1119T= |
| ENST00000598577.1:c.190-1097T= |