Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49191415C>T , CM000685.2:g.49191415C>T | GRCh38 |
| NC_000023.10:g.49047872C>T , CM000685.1:g.49047872C>T | GRCh37 |
| NC_000023.9:g.48934816C>T | NCBI36 |
| NG_012532.1:g.13790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689634.1:n.2551G>A | ||
| ENST00000692723.1:n.972+18G>A | ||
| ENST00000263233.9:c.*4+18G>A MANE Select | ENSP00000263233.4:n.*4+18G>A | |
| ENST00000263233.8:c.*4+18G>A | ENSP00000263233.4:n.*4+18G>A | |
| ENST00000376303.6:c.*698+18G>A | ENSP00000365480.2:n.*698+18G>A | |
| ENST00000472598.5:c.615+18G>A | ||
| ENST00000479808.5:c.*22G>A | ENSP00000418169.1:n.*22G>A | |
| NM_003179.2:c.*4+18G>A | NP_003170.1:n.*4+18G>A | |
| XM_011543950.1:c.*4+18G>A | XP_011542252.1:n.*4+18G>A | |
| XM_011543951.1:c.*4+18G>A | XP_011542253.1:n.*4+18G>A | |
| NM_003179.3:c.*4+18G>A MANE Select | NP_003170.1:n.*4+18G>A |