Linked Data
dbSNP Id:
rs764742525
ExAC:
1:205744080 C / T
gnomAD v2:
1-205744080-C-T
gnomAD v4:
1-205774952-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205774952C>T , CM000663.2:g.205774952C>T | GRCh38 |
| NC_000001.10:g.205744080C>T , CM000663.1:g.205744080C>T | GRCh37 |
| NC_000001.9:g.204010703C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367139.8:c.5G>A MANE Select | ENSP00000356107.3:p.Gly2Asp | |
| ENST00000235932.8:c.5G>A | ENSP00000235932.4:p.Gly2Asp | |
| ENST00000367139.7:c.5G>A | ENSP00000356107.3:p.Gly2Asp | |
| ENST00000414729.1:c.5G>A | ENSP00000402910.1:p.Gly2Asp | |
| ENST00000437324.6:c.-93+321G>A | ENSP00000416613.2:n.-93+321G>A | |
| ENST00000446390.6:c.5G>A | ENSP00000389899.2:p.Gly2Asp | |
| ENST00000468887.1:n.168+321G>A | ||
| ENST00000492534.1:n.200G>A | ||
| ENST00000528078.1:c.5G>A | ENSP00000431483.1:p.Gly2Asp | |
| ENST00000533111.1:n.81+177G>A | ||
| NM_001135662.1:c.5G>A | NP_001129134.1:p.Gly2Asp | |
| NM_001135663.1:c.5G>A | NP_001129135.1:p.Gly2Asp | |
| NM_001135664.1:c.-93+321G>A | NP_001129136.1:n.-93+321G>A | |
| NM_003929.2:c.5G>A | NP_003920.1:p.Gly2Asp | |
| XM_005245569.1:c.5G>A | XP_005245626.1:p.Gly2Asp | |
| XM_005245570.1:c.5G>A | XP_005245627.1:p.Gly2Asp | |
| XM_005245571.1:c.5G>A | XP_005245628.1:p.Gly2Asp | |
| XM_006711605.2:c.-93+422G>A | XP_006711668.1:n.-93+422G>A | |
| XM_006711606.1:c.-93+450G>A | XP_006711669.1:n.-93+450G>A | |
| XM_006711605.3:c.-93+422G>A | XP_006711668.1:n.-93+422G>A | |
| XM_006711606.3:c.-93+450G>A | XP_006711669.1:n.-93+450G>A | |
| XM_017002748.1:c.5G>A | XP_016858237.1:p.Gly2Asp | |
| XM_017002749.1:c.5G>A | XP_016858238.1:p.Gly2Asp | |
| XM_017002750.1:c.5G>A | XP_016858239.1:p.Gly2Asp | |
| NM_003929.3:c.5G>A MANE Select | NP_003920.1:p.Gly2Asp | |
| NM_001135662.2:c.5G>A | NP_001129134.1:p.Gly2Asp | |
| NM_001135663.2:c.5G>A | NP_001129135.1:p.Gly2Asp | |
| NM_001135664.2:c.-93+321G>A | NP_001129136.1:n.-93+321G>A |