Linked Data
dbSNP Id:
rs590223
gnomAD v2:
1-209946707-G-A
gnomAD v3:
1-209773362-G-A
gnomAD v4:
1-209773362-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209773362G>A , CM000663.2:g.209773362G>A | GRCh38 |
| NC_000001.10:g.209946707G>A , CM000663.1:g.209946707G>A | GRCh37 |
| NC_000001.9:g.208013330G>A | NCBI36 |
| NG_033934.1:g.22331G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367025.8:c.774+343G>A MANE Select | ENSP00000355992.3:n.774+343G>A | |
| ENST00000367023.5:c.-19+343G>A | ENSP00000355990.1:n.-19+343G>A | |
| ENST00000367024.5:c.774+343G>A | ENSP00000355991.1:n.774+343G>A | |
| ENST00000367025.7:c.774+343G>A | ENSP00000355992.3:n.774+343G>A | |
| ENST00000367026.7:c.714+343G>A | ENSP00000355993.3:n.714+343G>A | |
| ENST00000400959.7:c.714+343G>A | ENSP00000383743.3:n.714+343G>A | |
| ENST00000474496.5:n.128+343G>A | ||
| ENST00000476050.5:n.138+343G>A | ||
| ENST00000477431.1:c.-19+343G>A | ENSP00000417417.1:n.-19+343G>A | |
| ENST00000478359.5:c.774+343G>A | ENSP00000417665.1:n.774+343G>A | |
| ENST00000487271.5:c.-78+343G>A | ENSP00000418906.1:n.-78+343G>A | |
| NM_001287754.1:c.-19+343G>A | NP_001274683.1:n.-19+343G>A | |
| NM_025228.3:c.774+343G>A | NP_079504.2:n.774+343G>A | |
| NR_109871.1:n.1211+343G>A | ||
| XM_005273279.3:c.-19+343G>A | XP_005273336.1:n.-19+343G>A | |
| XM_005273280.2:c.-78+343G>A | XP_005273337.1:n.-78+343G>A | |
| XM_011510016.1:c.714+343G>A | XP_011508318.1:n.714+343G>A | |
| XM_011510017.1:c.774+343G>A | XP_011508319.1:n.774+343G>A | |
| XM_011510018.1:c.774+343G>A | XP_011508320.1:n.774+343G>A | |
| XM_011510019.1:c.774+343G>A | XP_011508321.1:n.774+343G>A | |
| XR_247044.1:n.1195+343G>A | ||
| NM_001320143.1:c.774+343G>A | NP_001307072.1:n.774+343G>A | |
| NM_001320144.1:c.714+343G>A | NP_001307073.1:n.714+343G>A | |
| XM_005273279.5:c.-19+343G>A | XP_005273336.1:n.-19+343G>A | |
| XM_011510018.3:c.774+343G>A | XP_011508320.1:n.774+343G>A | |
| XM_011510019.2:c.774+343G>A | XP_011508321.1:n.774+343G>A | |
| XM_017002399.2:c.774+343G>A | XP_016857888.1:n.774+343G>A | |
| XM_017002400.2:c.774+343G>A | XP_016857889.1:n.774+343G>A | |
| XM_024449954.1:c.-19+343G>A | XP_024305722.1:n.-19+343G>A | |
| XR_001737438.2:n.1189+343G>A | ||
| XR_001737439.2:n.1190+343G>A | ||
| XR_001737440.2:n.1190+343G>A | ||
| XR_247044.3:n.1190+343G>A | ||
| NM_025228.4:c.774+343G>A MANE Select | NP_079504.2:n.774+343G>A | |
| NM_001287754.2:c.-19+343G>A | NP_001274683.1:n.-19+343G>A | |
| NM_001320144.2:c.714+343G>A | NP_001307073.1:n.714+343G>A | |
| NR_109871.2:n.1190+343G>A | ||
| NM_001320143.2:c.774+343G>A | NP_001307072.1:n.774+343G>A |