Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155811809C= , CM000669.2:g.155811809C= | GRCh38 |
| NC_000007.13:g.155604503C= , CM000669.1:g.155604503C= | GRCh37 |
| NC_000007.12:g.155297264C= | NCBI36 |
| NG_007504.2:g.5465G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.300+14G= MANE Select | ENSP00000297261.2:n.300+14G= | |
| ENST00000297261.6:c.300+14G= | ENSP00000297261.2:n.300+14G= | |
| NM_000193.2:c.300+14G= | NP_000184.1:n.300+14G= | |
| NM_000193.3:c.300+14G= | NP_000184.1:n.300+14G= | |
| XM_011516479.2:c.-2907G= | XP_011514781.1:n.-2907G= | |
| XM_011516480.2:c.-3205G= | XP_011514782.1:n.-3205G= | |
| NM_000193.4:c.300+14G= MANE Select | NP_000184.1:n.300+14G= |