Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33691269G= , CM000668.2:g.33691269G= | GRCh38 |
| NC_000006.11:g.33659046G= , CM000668.1:g.33659046G= | GRCh37 |
| NC_000006.10:g.33767024G= | NCBI36 |
| NG_027729.1:g.74891G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002224.4:c.7225+160G= MANE Select | NP_002215.2:n.7225+160G= |
| ENST00000605930.3:c.7225+160G= MANE Select | ENSP00000475177.1:n.7225+160G= |
| NM_002224.3:c.7225+160G= | NP_002215.2:n.7225+160G= |
| ENST00000374316.9:c.7225+160G= | ENSP00000363435.4:n.7225+160G= |
| ENST00000605930.2:c.7225+160G= | ENSP00000475177.1:n.7225+160G= |
| XM_011514576.1:c.7294+160G= | XP_011512878.1:n.7294+160G= |
| XM_011514577.1:c.7042+160G= | XP_011512879.1:n.7042+160G= |
| XM_011514577.3:c.7042+160G= | XP_011512879.1:n.7042+160G= |