gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44227538T>A , CM000683.2:g.44227538T>A | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344330.9:c.898+2516A>T | ENSP00000339477.4:n.898+2516A>T | |
| ENST00000400377.4:c.*1496A>T | ENSP00000383228.3:n.*1496A>T | |
| ENST00000400379.8:c.*1992A>T | ENSP00000383230.3:n.*1992A>T | |
| ENST00000407780.8:c.*1496A>T MANE Select | ENSP00000384432.3:n.*1496A>T | |
| ENST00000643466.2:c.898+2516A>T | ENSP00000494882.2:n.898+2516A>T | |
| ENST00000700350.1:c.*2541A>T | ENSP00000514955.1:n.*2541A>T | |
| ENST00000700351.1:n.4713A>T | ||
| ENST00000700352.1:c.*1496A>T | ENSP00000514956.1:n.*1496A>T | |
| ENST00000700353.1:n.3538A>T | ||
| ENST00000700354.1:n.5340A>T | ||
| ENST00000700355.1:c.*1992A>T | ENSP00000514957.1:n.*1992A>T | |
| ENST00000700356.1:c.*2633A>T | ENSP00000514958.1:n.*2633A>T | |
| ENST00000700357.1:c.*2397A>T | ENSP00000514959.1:n.*2397A>T | |
| ENST00000700358.1:c.*1496A>T | ENSP00000514960.1:n.*1496A>T | |
| ENST00000643466.1:c.36+2516A>T | ||
| ENST00000344330.8:c.898+2516A>T | ENSP00000339477.4:n.898+2516A>T | |
| ENST00000400377.3:c.*1496A>T | ENSP00000383228.3:n.*1496A>T | |
| ENST00000400379.7:c.*1992A>T | ENSP00000383230.3:n.*1992A>T | |
| ENST00000407780.7:c.*1496A>T | ENSP00000384432.3:n.*1496A>T | |
| NM_001283050.1:c.898+2516A>T | NP_001269979.1:n.898+2516A>T | |
| NM_001283051.1:c.*1496A>T | NP_001269980.1:n.*1496A>T | |
| NM_001283052.1:c.*1496A>T | NP_001269981.1:n.*1496A>T | |
| NM_015259.5:c.*1496A>T | NP_056074.1:n.*1496A>T | |
| XM_011529514.1:c.898+2516A>T | XP_011527816.1:n.898+2516A>T | |
| XM_011529516.1:c.817+2516A>T | XP_011527818.1:n.817+2516A>T | |
| NM_001365759.1:c.*1496A>T | NP_001352688.1:n.*1496A>T | |
| XM_011529514.3:c.898+2516A>T | XP_011527816.1:n.898+2516A>T | |
| XM_011529516.3:c.817+2516A>T | XP_011527818.1:n.817+2516A>T | |
| NM_001283050.2:c.898+2516A>T | NP_001269979.1:n.898+2516A>T | |
| NM_001283051.2:c.*1496A>T | NP_001269980.1:n.*1496A>T | |
| NM_001283052.2:c.*1496A>T | NP_001269981.1:n.*1496A>T | |
| NM_001365759.2:c.*1496A>T | NP_001352688.1:n.*1496A>T | |
| NM_015259.6:c.*1496A>T MANE Select | NP_056074.1:n.*1496A>T | |
| NM_001395918.1:c.*1992A>T | NP_001382847.1:n.*1992A>T |