gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49359387G>C , CM000679.2:g.49359387G>C | GRCh38 |
| NC_000017.10:g.47436749G>C , CM000679.1:g.47436749G>C | GRCh37 |
| NC_000017.9:g.44791748G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430262.3:c.-259+2522C>G MANE Select | ENSP00000416305.2:n.-259+2522C>G | |
| ENST00000362063.6:c.-259+3026C>G | ENSP00000354686.2:n.-259+3026C>G | |
| ENST00000430262.2:c.-259+2522C>G | ENSP00000416305.2:n.-259+2522C>G | |
| ENST00000508237.5:c.-383+2522C>G | ENSP00000424848.1:n.-383+2522C>G | |
| NM_001145365.1:c.-259+2522C>G | NP_001138837.1:n.-259+2522C>G | |
| NM_014897.2:c.-259+3026C>G | NP_055712.1:n.-259+3026C>G | |
| NR_135579.1:n.206+2522C>G | ||
| XM_024450654.1:c.-383+2522C>G | XP_024306422.1:n.-383+2522C>G | |
| NM_001145365.2:c.-259+2522C>G | NP_001138837.1:n.-259+2522C>G | |
| NR_135579.2:n.342+2522C>G | ||
| NM_001145365.3:c.-259+2522C>G MANE Select | NP_001138837.1:n.-259+2522C>G |