gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89324237G>A , CM000677.2:g.89324237G>A | GRCh38 |
| NC_000015.9:g.89867468G>A , CM000677.1:g.89867468G>A | GRCh37 |
| NC_000015.8:g.87668472G>A | NCBI36 |
| NG_008218.1:g.15559C>T | |
| NG_008218.2:g.15559C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1950-10C>T | ENSP00000516154.1:n.1950-10C>T | |
| ENST00000268124.11:c.1950-10C>T MANE Select | ENSP00000268124.5:n.1950-10C>T | |
| ENST00000530292.3:c.1551-10C>T | ENSP00000432885.2:n.1551-10C>T | |
| ENST00000635986.2:c.1950-10C>T | ENSP00000490653.2:n.1950-10C>T | |
| ENST00000636774.1:c.*517-10C>T | ENSP00000489799.1:n.*517-10C>T | |
| ENST00000637238.1:c.647-10C>T | ENSP00000490756.1:n.647-10C>T | |
| ENST00000637264.1:c.1022-10C>T | ||
| ENST00000666746.1:c.1527-10C>T | ||
| ENST00000670281.1:c.270-10C>T | ENSP00000499709.1:n.270-10C>T | |
| ENST00000672071.1:n.2148-10C>T | ||
| ENST00000672923.2:n.2053-10C>T | ||
| ENST00000268124.9:c.1950-10C>T | ENSP00000268124.5:n.1950-10C>T | |
| ENST00000442287.6:c.1950-10C>T | ENSP00000399851.2:n.1950-10C>T | |
| ENST00000526314.2:c.332-10C>T | ||
| ENST00000526398.1:c.139-50C>T | ||
| ENST00000526573.1:n.36-10C>T | ||
| ENST00000532584.5:n.152-10C>T | ||
| ENST00000533857.1:n.55C>T | ||
| ENST00000631044.2:c.*1333-10C>T | ENSP00000486730.1:n.*1333-10C>T | |
| NM_001126131.1:c.1950-10C>T | NP_001119603.1:n.1950-10C>T | |
| NM_002693.2:c.1950-10C>T | NP_002684.1:n.1950-10C>T | |
| NM_001126131.2:c.1950-10C>T | NP_001119603.1:n.1950-10C>T | |
| NM_002693.3:c.1950-10C>T MANE Select | NP_002684.1:n.1950-10C>T |