gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32865985T>A , CM000681.2:g.32865985T>A | GRCh38 |
| NC_000019.9:g.33356891T>A , CM000681.1:g.33356891T>A | GRCh37 |
| NC_000019.8:g.38048731T>A | NCBI36 |
| NG_008258.1:g.8793A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000023064.9:c.88-1209A>T MANE Select | ENSP00000023064.3:n.88-1209A>T | |
| ENST00000023064.8:c.88-1209A>T | ENSP00000023064.3:n.88-1209A>T | |
| ENST00000587772.1:c.88-1209A>T | ENSP00000468439.1:n.88-1209A>T | |
| ENST00000590341.5:c.88-1209A>T | ENSP00000464822.1:n.88-1209A>T | |
| ENST00000590465.5:c.88-1647A>T | ENSP00000468076.1:n.88-1647A>T | |
| ENST00000592232.5:c.88-1647A>T | ENSP00000465563.1:n.88-1647A>T | |
| NM_001126335.1:c.88-1209A>T | NP_001119807.1:n.88-1209A>T | |
| NM_001243036.1:c.88-1209A>T | NP_001229965.1:n.88-1209A>T | |
| NM_014270.4:c.88-1209A>T | NP_055085.1:n.88-1209A>T | |
| XM_006722992.1:c.-368-1209A>T | XP_006723055.1:n.-368-1209A>T | |
| XM_011526402.1:c.88-1209A>T | XP_011524704.1:n.88-1209A>T | |
| XM_011526402.3:c.88-1209A>T | XP_011524704.1:n.88-1209A>T | |
| XM_017026230.1:c.-29-1647A>T | XP_016881719.1:n.-29-1647A>T | |
| XM_024451334.1:c.-955-1209A>T | XP_024307102.1:n.-955-1209A>T | |
| NM_014270.5:c.88-1209A>T MANE Select | NP_055085.1:n.88-1209A>T | |
| NM_001126335.2:c.88-1209A>T | NP_001119807.1:n.88-1209A>T | |
| NM_001243036.2:c.88-1209A>T | NP_001229965.1:n.88-1209A>T |