Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147907923G= , CM000663.2:g.147907923G= | GRCh38 |
| NC_000001.10:g.147380050G= , CM000663.1:g.147380050G= | GRCh37 |
| NC_000001.9:g.145846674G= | NCBI36 |
| NG_016242.1:g.10105G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.-11-22G= MANE Select | ENSP00000358238.1:n.-11-22G= | |
| NM_005267.4:c.-11-22G= | NP_005258.2:n.-11-22G= | |
| XM_011509416.1:c.-33G= | XP_011507718.1:n.-33G= | |
| XM_011509417.1:c.-33G= | XP_011507719.1:n.-33G= | |
| XM_011509417.2:c.-33G= | XP_011507719.1:n.-33G= | |
| XR_002956281.1:n.883G= | ||
| NM_005267.5:c.-11-22G= MANE Select | NP_005258.2:n.-11-22G= |