gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120049399G>A , CM000665.2:g.120049399G>A | GRCh38 |
| NC_000003.11:g.119768246G>A , CM000665.1:g.119768246G>A | GRCh37 |
| NC_000003.10:g.121250936G>A | NCBI36 |
| NG_012922.1:g.50019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264235.13:c.88+43948C>T MANE Select | ENSP00000264235.9:n.88+43948C>T | |
| ENST00000316626.6:c.88+43948C>T | ENSP00000324806.5:n.88+43948C>T | |
| ENST00000650344.2:c.88+43948C>T | ENSP00000497956.2:n.88+43948C>T | |
| ENST00000677034.1:c.89-27773C>T | ENSP00000504055.1:n.89-27773C>T | |
| ENST00000677128.1:c.92+43944C>T | ENSP00000503177.1:n.92+43944C>T | |
| ENST00000677169.1:c.88+43948C>T | ENSP00000503107.1:n.88+43948C>T | |
| ENST00000677530.1:n.545+43948C>T | ||
| ENST00000677788.1:n.557+43948C>T | ||
| ENST00000678245.1:n.545+43948C>T | ||
| ENST00000678439.1:c.88+43948C>T | ENSP00000503868.1:n.88+43948C>T | |
| ENST00000679131.1:n.30+36937C>T | ||
| ENST00000264235.12:c.88+43948C>T | ENSP00000264235.8:n.88+43948C>T | |
| ENST00000316626.5:c.88+43948C>T | ENSP00000324806.5:n.88+43948C>T | |
| NM_001146156.1:c.88+43948C>T | NP_001139628.1:n.88+43948C>T | |
| NM_002093.3:c.88+43948C>T | NP_002084.2:n.88+43948C>T | |
| XM_006713610.1:c.88+43948C>T | XP_006713673.1:n.88+43948C>T | |
| XM_006713611.1:c.88+43948C>T | XP_006713674.1:n.88+43948C>T | |
| NM_001354596.1:c.88+43948C>T | NP_001341525.1:n.88+43948C>T | |
| XM_006713610.3:c.88+43948C>T | XP_006713673.1:n.88+43948C>T | |
| XR_002959518.1:n.2477+43948C>T | ||
| NM_001146156.2:c.88+43948C>T MANE Select | NP_001139628.1:n.88+43948C>T | |
| NM_001354596.2:c.88+43948C>T | NP_001341525.1:n.88+43948C>T | |
| NM_002093.4:c.88+43948C>T | NP_002084.2:n.88+43948C>T |