gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2165659G>C , CM000673.2:g.2165659G>C | GRCh38 |
| NC_000011.9:g.2186889G>C , CM000673.1:g.2186889G>C | GRCh37 |
| NC_000011.8:g.2143465G>C | NCBI36 |
| NG_007114.1:g.536C>G | |
| NG_008128.1:g.11147C>G | |
| NG_050578.1:g.551C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.1200+9C>G MANE Select | ENSP00000325951.4:n.1200+9C>G | |
| ENST00000324155.8:c.*889+9C>G | ENSP00000325831.3:n.*889+9C>G | |
| ENST00000333684.9:c.918+9C>G | ENSP00000328814.6:n.918+9C>G | |
| ENST00000352909.7:c.1200+9C>G | ENSP00000325951.3:n.1200+9C>G | |
| ENST00000381175.5:c.1281+9C>G | ENSP00000370567.1:n.1281+9C>G | |
| ENST00000381178.5:c.1293+9C>G | ENSP00000370571.1:n.1293+9C>G | |
| NM_000360.3:c.1200+9C>G | NP_000351.2:n.1200+9C>G | |
| NM_199292.2:c.1293+9C>G | NP_954986.2:n.1293+9C>G | |
| NM_199293.2:c.1281+9C>G | NP_954987.2:n.1281+9C>G | |
| XM_011520335.1:c.1212+9C>G | XP_011518637.1:n.1212+9C>G | |
| XM_011520335.2:c.1212+9C>G | XP_011518637.1:n.1212+9C>G | |
| NM_000360.4:c.1200+9C>G MANE Select | NP_000351.2:n.1200+9C>G | |
| NM_199292.3:c.1293+9C>G | NP_954986.2:n.1293+9C>G | |
| NM_199293.3:c.1281+9C>G | NP_954987.2:n.1281+9C>G |