gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49076629T>A , CM000685.2:g.49076629T>A | GRCh38 |
| NC_000023.10:g.48934288T>A , CM000685.1:g.48934288T>A | GRCh37 |
| NC_000023.9:g.48821232T>A | NCBI36 |
| NG_033004.1:g.28772A>T | |
| NG_033004.2:g.29542A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376372.9:c.341+16A>T MANE Select | ENSP00000365551.3:n.341+16A>T | |
| ENST00000322995.13:c.341+16A>T | ENSP00000365543.5:n.341+16A>T | |
| ENST00000356463.7:c.344+16A>T | ENSP00000348848.3:n.344+16A>T | |
| ENST00000367375.8:c.210+16A>T | ||
| ENST00000376358.4:c.131-684A>T | ENSP00000365536.3:n.131-684A>T | |
| ENST00000376368.7:c.344+16A>T | ENSP00000365546.2:n.344+16A>T | |
| ENST00000376372.8:c.341+16A>T | ENSP00000365551.3:n.341+16A>T | |
| ENST00000396681.9:c.236+16A>T | ENSP00000379913.5:n.236+16A>T | |
| ENST00000419567.7:c.341+16A>T | ENSP00000393640.3:n.341+16A>T | |
| ENST00000423215.3:c.395+16A>T | ENSP00000397657.3:n.395+16A>T | |
| ENST00000465382.6:c.341+16A>T | ENSP00000420534.1:n.341+16A>T | |
| ENST00000465806.6:n.1498+16A>T | ||
| ENST00000471338.6:c.341+16A>T | ENSP00000418466.2:n.341+16A>T | |
| ENST00000472654.1:n.246+16A>T | ||
| ENST00000473974.5:c.341+16A>T | ENSP00000417211.1:n.341+16A>T | |
| ENST00000474053.6:c.416+16A>T | ENSP00000420728.1:n.416+16A>T | |
| ENST00000475880.6:c.239+16A>T | ENSP00000418919.2:n.239+16A>T | |
| ENST00000476728.5:c.236+16A>T | ENSP00000419324.1:n.236+16A>T | |
| ENST00000485908.6:c.236+16A>T | ENSP00000419897.1:n.236+16A>T | |
| ENST00000634465.1:n.619+16A>T | ||
| ENST00000634522.1:c.236-105A>T | ENSP00000489330.1:n.236-105A>T | |
| ENST00000634559.1:c.236-684A>T | ENSP00000488986.1:n.236-684A>T | |
| ENST00000634736.1:c.131-684A>T | ENSP00000489561.1:n.131-684A>T | |
| ENST00000634838.1:c.341+16A>T | ENSP00000489268.1:n.341+16A>T | |
| ENST00000634849.1:c.410+16A>T | ENSP00000489150.1:n.410+16A>T | |
| ENST00000634852.1:n.100-166A>T | ||
| ENST00000634944.1:c.341+16A>T | ENSP00000488972.1:n.341+16A>T | |
| ENST00000635003.1:c.236-684A>T | ENSP00000489080.1:n.236-684A>T | |
| ENST00000635329.1:n.150+16A>T | ||
| ENST00000635344.1:c.131-105A>T | ENSP00000489553.1:n.131-105A>T | |
| ENST00000635666.1:c.269+16A>T | ENSP00000489128.1:n.269+16A>T | |
| NM_001029896.1:c.341+16A>T | NP_001025067.1:n.341+16A>T | |
| NM_007075.3:c.344+16A>T | NP_009006.2:n.344+16A>T | |
| NM_001029896.2:c.341+16A>T MANE Select | NP_001025067.1:n.341+16A>T | |
| NM_007075.4:c.344+16A>T | NP_009006.2:n.344+16A>T |