Linked Data
dbSNP Id:
rs2148072
gnomAD v2:
13-43162063-G-A
gnomAD v3:
13-42587927-G-A
gnomAD v4:
13-42587927-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42587927G>A , CM000675.2:g.42587927G>A | GRCh38 |
| NC_000013.10:g.43162063G>A , CM000675.1:g.43162063G>A | GRCh37 |
| NC_000013.9:g.42060063G>A | NCBI36 |
| NG_008990.1:g.30192G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398795.7:c.387+6634G>A MANE Select | ENSP00000381775.3:n.387+6634G>A | |
| ENST00000239849.8:c.246+6634G>A | ENSP00000239849.7:n.246+6634G>A | |
| ENST00000358545.6:c.168+6634G>A | ENSP00000351347.2:n.168+6634G>A | |
| ENST00000398795.6:c.387+6634G>A | ENSP00000381775.3:n.387+6634G>A | |
| ENST00000405262.6:c.168+6634G>A | ENSP00000384042.2:n.168+6634G>A | |
| ENST00000544862.5:c.168+6634G>A | ENSP00000444913.1:n.168+6634G>A | |
| NM_003701.3:c.387+6634G>A | NP_003692.1:n.387+6634G>A | |
| NM_033012.3:c.168+6634G>A | NP_143026.1:n.168+6634G>A | |
| XM_011535280.1:c.168+6634G>A | XP_011533582.1:n.168+6634G>A | |
| XM_011535280.2:c.168+6634G>A | XP_011533582.1:n.168+6634G>A | |
| XM_017020802.1:c.225+6634G>A | XP_016876291.1:n.225+6634G>A | |
| XM_017020803.2:c.168+6634G>A | XP_016876292.1:n.168+6634G>A | |
| NM_003701.4:c.387+6634G>A MANE Select | NP_003692.1:n.387+6634G>A | |
| NM_033012.4:c.168+6634G>A | NP_143026.1:n.168+6634G>A |