Linked Data
dbSNP Id:
rs1472066
gnomAD v2:
4-119863476-A-G
gnomAD v3:
4-118942321-A-G
gnomAD v4:
4-118942321-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118942321A>G , CM000666.2:g.118942321A>G | GRCh38 |
| NC_000004.11:g.119863476A>G , CM000666.1:g.119863476A>G | GRCh37 |
| NC_000004.10:g.120082924A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307142.9:c.105+53180A>G MANE Select | ENSP00000306015.4:n.105+53180A>G | |
| ENST00000429713.7:c.105+53180A>G | ENSP00000395143.2:n.105+53180A>G | |
| ENST00000307142.8:c.105+53180A>G | ENSP00000306015.4:n.105+53180A>G | |
| ENST00000429713.6:c.105+53180A>G | ENSP00000395143.2:n.105+53180A>G | |
| ENST00000434046.6:c.105+53180A>G | ENSP00000390965.2:n.105+53180A>G | |
| ENST00000448416.6:c.105+53180A>G | ENSP00000412623.2:n.105+53180A>G | |
| ENST00000610556.4:c.13-81109A>G | ENSP00000484885.1:n.13-81109A>G | |
| NM_001128933.2:c.105+53180A>G | NP_001122405.1:n.105+53180A>G | |
| NM_001128934.2:c.105+53180A>G | NP_001122406.1:n.105+53180A>G | |
| NM_001286754.1:c.13-81109A>G | NP_001273683.1:n.13-81109A>G | |
| NM_001286755.1:c.105+53180A>G | NP_001273684.1:n.105+53180A>G | |
| NM_133477.2:c.105+53180A>G | NP_597734.2:n.105+53180A>G | |
| XM_011531703.1:c.105+53180A>G | XP_011530005.1:n.105+53180A>G | |
| NM_133477.3:c.105+53180A>G MANE Select | NP_597734.2:n.105+53180A>G | |
| NM_001128933.3:c.105+53180A>G | NP_001122405.1:n.105+53180A>G | |
| NM_001128934.3:c.105+53180A>G | NP_001122406.1:n.105+53180A>G | |
| NM_001286754.2:c.13-81109A>G | NP_001273683.1:n.13-81109A>G | |
| NM_001286755.2:c.105+53180A>G | NP_001273684.1:n.105+53180A>G |