Linked Data
dbSNP Id:
rs11071200
gnomAD v2:
15-55950082-C-A
gnomAD v3:
15-55657884-C-A
gnomAD v4:
15-55657884-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.55657884C>A , CM000677.2:g.55657884C>A | GRCh38 |
| NC_000015.9:g.55950082C>A , CM000677.1:g.55950082C>A | GRCh37 |
| NC_000015.8:g.53737374C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389286.9:c.2041+14561G>T MANE Select | ENSP00000373937.4:n.2041+14561G>T | |
| ENST00000389286.8:c.2041+14561G>T | ENSP00000373937.4:n.2041+14561G>T | |
| ENST00000561465.1:c.647-1530G>T | ENSP00000453160.1:n.647-1530G>T | |
| NM_173814.5:c.2041+14561G>T | NP_776175.2:n.2041+14561G>T | |
| XM_011521459.1:c.2042-1508G>T | XP_011519761.1:n.2042-1508G>T | |
| XM_011521460.1:c.2042-1530G>T | XP_011519762.1:n.2042-1530G>T | |
| XR_429451.1:n.2759+14561G>T | ||
| XR_931797.1:n.2316+14561G>T | ||
| XM_011521459.2:c.2042-1508G>T | XP_011519761.1:n.2042-1508G>T | |
| XM_011521460.2:c.2042-1530G>T | XP_011519762.1:n.2042-1530G>T | |
| XM_017022081.2:c.1807+14561G>T | XP_016877570.1:n.1807+14561G>T | |
| XM_017022082.2:c.2041+14561G>T | XP_016877571.1:n.2041+14561G>T | |
| NM_173814.6:c.2041+14561G>T MANE Select | NP_776175.2:n.2041+14561G>T |