Linked Data
dbSNP Id:
rs1572931
gnomAD v4:
1-205775090-C-A
MyVariant Identifiers:
chr1:g.205775090C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205775090C>A , CM000663.2:g.205775090C>A | GRCh38 |
| NC_000001.10:g.205744218C>A , CM000663.1:g.205744218C>A | GRCh37 |
| NC_000001.9:g.204010841C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367139.8:c.-130-4G>T MANE Select | ENSP00000356107.3:n.-130-4G>T | |
| ENST00000235932.8:c.-130-4G>T | ENSP00000235932.4:n.-130-4G>T | |
| ENST00000367139.7:c.-130-4G>T | ENSP00000356107.3:n.-130-4G>T | |
| ENST00000414729.1:c.-134G>T | ENSP00000402910.1:n.-134G>T | |
| ENST00000437324.6:c.-93+183G>T | ENSP00000416613.2:n.-93+183G>T | |
| ENST00000446390.6:c.-134G>T | ENSP00000389899.2:n.-134G>T | |
| ENST00000468887.1:n.168+183G>T | ||
| ENST00000492534.1:n.62G>T | ||
| ENST00000528078.1:c.-130-4G>T | ENSP00000431483.1:n.-130-4G>T | |
| ENST00000533111.1:n.81+39G>T | ||
| NM_001135662.1:c.-130-4G>T | NP_001129134.1:n.-130-4G>T | |
| NM_001135663.1:c.-134G>T | NP_001129135.1:n.-134G>T | |
| NM_001135664.1:c.-93+183G>T | NP_001129136.1:n.-93+183G>T | |
| NM_003929.2:c.-130-4G>T | NP_003920.1:n.-130-4G>T | |
| XM_005245569.1:c.-134G>T | XP_005245626.1:n.-134G>T | |
| XM_005245570.1:c.-134G>T | XP_005245627.1:n.-134G>T | |
| XM_005245571.1:c.-130-4G>T | XP_005245628.1:n.-130-4G>T | |
| XM_006711605.2:c.-93+284G>T | XP_006711668.1:n.-93+284G>T | |
| XM_006711606.1:c.-93+312G>T | XP_006711669.1:n.-93+312G>T | |
| XM_006711605.3:c.-93+284G>T | XP_006711668.1:n.-93+284G>T | |
| XM_006711606.3:c.-93+312G>T | XP_006711669.1:n.-93+312G>T | |
| XM_017002748.1:c.-130-4G>T | XP_016858237.1:n.-130-4G>T | |
| XM_017002749.1:c.-134G>T | XP_016858238.1:n.-134G>T | |
| XM_017002750.1:c.-130-4G>T | XP_016858239.1:n.-130-4G>T | |
| NM_003929.3:c.-130-4G>T MANE Select | NP_003920.1:n.-130-4G>T | |
| NM_001135662.2:c.-130-4G>T | NP_001129134.1:n.-130-4G>T | |
| NM_001135663.2:c.-134G>T | NP_001129135.1:n.-134G>T | |
| NM_001135664.2:c.-93+183G>T | NP_001129136.1:n.-93+183G>T |