gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35472783 (EAS)
Genomes Max Group AF
0.35472783 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38906009C>T , CM000681.2:g.38906009C>T | GRCh38 |
| NC_000019.9:g.39396649C>T , CM000681.1:g.39396649C>T | GRCh37 |
| NC_000019.8:g.44088489C>T | NCBI36 |
| NG_029624.1:g.11310C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313582.6:c.619+474C>T MANE Select | ENSP00000312988.5:n.619+474C>T | |
| ENST00000313582.5:c.619+474C>T | ENSP00000312988.5:n.619+474C>T | |
| ENST00000392079.7:c.361+474C>T | ENSP00000375929.4:n.361+474C>T | |
| ENST00000509705.3:c.*365+474C>T | ENSP00000438598.2:n.*365+474C>T | |
| ENST00000572515.5:c.619+474C>T | ENSP00000459728.1:n.619+474C>T | |
| ENST00000575359.5:c.391+474C>T | ENSP00000458685.1:n.391+474C>T | |
| ENST00000576510.5:c.361+474C>T | ENSP00000461617.1:n.361+474C>T | |
| NM_001243116.1:c.361+474C>T | NP_001230045.1:n.361+474C>T | |
| NM_002503.4:c.619+474C>T | NP_002494.2:n.619+474C>T | |
| NR_040515.1:n.666+474C>T | ||
| XM_006723226.2:c.523+474C>T | XP_006723289.2:n.523+474C>T | |
| XM_006723227.2:c.361+474C>T | XP_006723290.2:n.361+474C>T | |
| XM_006723227.3:c.604+474C>T | XP_006723290.3:n.604+474C>T | |
| NM_002503.5:c.619+474C>T MANE Select | NP_002494.2:n.619+474C>T | |
| NM_001369699.1:c.619+474C>T | NP_001356628.1:n.619+474C>T | |
| NM_001369700.1:c.343+474C>T | NP_001356629.1:n.343+474C>T | |
| NR_040515.2:n.627+474C>T | ||
| NR_161470.1:n.514+474C>T | ||
| NM_001243116.2:c.361+474C>T | NP_001230045.1:n.361+474C>T |