Linked Data
dbSNP Id:
rs755738358
ExAC:
17:42331849 C / A
gnomAD v2:
17-42331849-C-A
gnomAD v4:
17-44254481-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44254481C>A , CM000679.2:g.44254481C>A | GRCh38 |
| NC_000017.10:g.42331849C>A , CM000679.1:g.42331849C>A | GRCh37 |
| NC_000017.9:g.39687375C>A | NCBI36 |
| NG_007498.1:g.18654G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.2057+15G>T MANE Select | ENSP00000262418.6:n.2057+15G>T | |
| ENST00000262418.10:c.2057+15G>T | ENSP00000262418.6:n.2057+15G>T | |
| ENST00000399246.3:c.959+15G>T | ENSP00000382190.3:n.959+15G>T | |
| NM_000342.3:c.2057+15G>T | NP_000333.1:n.2057+15G>T | |
| XM_005257593.3:c.1862+15G>T | XP_005257650.1:n.1862+15G>T | |
| XM_011525129.1:c.1967+15G>T | XP_011523431.1:n.1967+15G>T | |
| XM_011525130.1:c.2057+15G>T | XP_011523432.1:n.2057+15G>T | |
| XM_011525131.1:c.2057+15G>T | XP_011523433.1:n.2057+15G>T | |
| XM_005257593.5:c.1862+15G>T | XP_005257650.1:n.1862+15G>T | |
| XM_011525129.2:c.1967+15G>T | XP_011523431.1:n.1967+15G>T | |
| NM_000342.4:c.2057+15G>T MANE Select | NP_000333.1:n.2057+15G>T |