gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81288009C>A , CM000679.2:g.81288009C>A | GRCh38 |
| NC_000017.10:g.79261809C>A , CM000679.1:g.79261809C>A | GRCh37 |
| NC_000017.9:g.76876404C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374759.8:c.217+1682G>T MANE Select | ENSP00000363891.3:n.217+1682G>T | |
| ENST00000288439.9:c.217+1682G>T | ENSP00000288439.5:n.217+1682G>T | |
| ENST00000374759.7:c.217+1682G>T | ENSP00000363891.3:n.217+1682G>T | |
| ENST00000539748.1:c.73+1682G>T | ENSP00000439115.1:n.73+1682G>T | |
| NM_001037984.2:c.217+1682G>T | NP_001033073.1:n.217+1682G>T | |
| NM_138570.3:c.217+1682G>T | NP_612637.1:n.217+1682G>T | |
| XM_005257019.1:c.217+1682G>T | XP_005257076.1:n.217+1682G>T | |
| XM_011524288.1:c.238+1661G>T | XP_011522590.1:n.238+1661G>T | |
| XM_011524289.1:c.238+1661G>T | XP_011522591.1:n.238+1661G>T | |
| NM_001037984.3:c.217+1682G>T MANE Select | NP_001033073.1:n.217+1682G>T | |
| NM_138570.4:c.217+1682G>T | NP_612637.1:n.217+1682G>T |