Linked Data
dbSNP Id:
rs4522809
gnomAD v2:
3-30668684-A-G
gnomAD v3:
3-30627192-A-G
gnomAD v4:
3-30627192-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30627192A>G , CM000665.2:g.30627192A>G | GRCh38 |
| NC_000003.11:g.30668684A>G , CM000665.1:g.30668684A>G | GRCh37 |
| NC_000003.10:g.30643688A>G | NCBI36 |
| NG_007490.1:g.25691A>G , LRG_779:g.25691A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.95-17555A>G MANE Select | ENSP00000295754.5:n.95-17555A>G | |
| ENST00000673250.1:n.218+3919A>G | ||
| ENST00000295754.9:c.95-17555A>G | ENSP00000295754.5:n.95-17555A>G | |
| ENST00000359013.4:c.169+3919A>G | ENSP00000351905.4:n.169+3919A>G | |
| NM_001024847.2:c.169+3919A>G , LRG_779t1:c.169+3919A>G | NP_001020018.1:n.169+3919A>G | |
| NM_003242.5:c.95-17555A>G | NP_003233.4:n.95-17555A>G | |
| XM_011534043.1:c.121+3919A>G | XP_011532345.1:n.121+3919A>G | |
| XM_011534044.1:c.46+12486A>G | XP_011532346.1:n.46+12486A>G | |
| XM_011534045.1:c.-11-17555A>G | XP_011532347.1:n.-11-17555A>G | |
| XM_011534043.2:c.121+3919A>G | XP_011532345.1:n.121+3919A>G | |
| XM_011534045.3:c.-11-17555A>G | XP_011532347.1:n.-11-17555A>G | |
| NM_003242.6:c.95-17555A>G MANE Select | NP_003233.4:n.95-17555A>G |