Linked Data
dbSNP Id:
rs2657940
gnomAD v2:
19-52863836-G-A
gnomAD v3:
19-52360583-G-A
gnomAD v4:
19-52360583-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52360583G>A , CM000681.2:g.52360583G>A | GRCh38 |
| NC_000019.9:g.52863836G>A , CM000681.1:g.52863836G>A | GRCh37 |
| NC_000019.8:g.57555648G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403906.8:c.320-5115G>A MANE Select | ENSP00000383922.2:n.320-5115G>A | |
| ENST00000321287.12:c.320-5115G>A | ENSP00000324441.8:n.320-5115G>A | |
| ENST00000327920.12:c.320-5115G>A | ENSP00000327597.7:n.320-5115G>A | |
| ENST00000403906.7:c.320-5115G>A | ENSP00000383922.2:n.320-5115G>A | |
| ENST00000601151.5:c.191-5115G>A | ENSP00000471021.1:n.191-5115G>A | |
| ENST00000613461.3:c.191-5115G>A | ENSP00000477617.1:n.191-5115G>A | |
| ENST00000616431.2:c.320-5115G>A | ENSP00000485001.1:n.320-5115G>A | |
| NM_001161425.1:c.320-5115G>A | NP_001154897.1:n.320-5115G>A | |
| NM_001161426.1:c.320-5115G>A | NP_001154898.1:n.320-5115G>A | |
| NM_001161427.1:c.191-5115G>A | NP_001154899.1:n.191-5115G>A | |
| NM_173530.2:c.320-5115G>A | NP_775801.2:n.320-5115G>A | |
| XM_011526560.1:c.320-5115G>A | XP_011524862.1:n.320-5115G>A | |
| XM_011526561.1:c.320-5115G>A | XP_011524863.1:n.320-5115G>A | |
| XM_011526562.1:c.320-5115G>A | XP_011524864.1:n.320-5115G>A | |
| NM_001161425.2:c.320-5115G>A MANE Select | NP_001154897.1:n.320-5115G>A | |
| NM_001161426.2:c.320-5115G>A | NP_001154898.1:n.320-5115G>A | |
| NM_001161427.2:c.191-5115G>A | NP_001154899.1:n.191-5115G>A | |
| NM_173530.3:c.320-5115G>A | NP_775801.2:n.320-5115G>A |