Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29694834G>A , CM000664.2:g.29694834G>A | GRCh38 |
| NC_000002.11:g.29917700G>A , CM000664.1:g.29917700G>A | GRCh37 |
| NC_000002.10:g.29771204G>A | NCBI36 |
| NG_009445.1:g.231733C>T , LRG_488:g.231733C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.952+16C>T MANE Select | ENSP00000373700.3:n.952+16C>T | |
| ENST00000389048.7:c.952+16C>T | ENSP00000373700.3:n.952+16C>T | |
| ENST00000618119.4:c.-180+16C>T | ENSP00000482733.1:n.-180+16C>T | |
| NM_004304.4:c.952+16C>T | NP_004295.2:n.952+16C>T | |
| XR_001738688.2:n.1882+16C>T | ||
| NM_004304.5:c.952+16C>T MANE Select | NP_004295.2:n.952+16C>T |