Linked Data
dbSNP Id:
rs3773643
gnomAD v2:
3-30710243-A-G
gnomAD v3:
3-30668751-A-G
gnomAD v4:
3-30668751-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30668751A>G , CM000665.2:g.30668751A>G | GRCh38 |
| NC_000003.11:g.30710243A>G , CM000665.1:g.30710243A>G | GRCh37 |
| NC_000003.10:g.30685247A>G | NCBI36 |
| NG_007490.1:g.67250A>G , LRG_779:g.67250A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.455-2887A>G MANE Select | ENSP00000295754.5:n.455-2887A>G | |
| ENST00000672866.1:n.2051-2887A>G | ||
| ENST00000295754.9:c.455-2887A>G | ENSP00000295754.5:n.455-2887A>G | |
| ENST00000359013.4:c.530-2887A>G | ENSP00000351905.4:n.530-2887A>G | |
| NM_001024847.2:c.530-2887A>G , LRG_779t1:c.530-2887A>G | NP_001020018.1:n.530-2887A>G | |
| NM_003242.5:c.455-2887A>G | NP_003233.4:n.455-2887A>G | |
| XM_011534043.1:c.482-2887A>G | XP_011532345.1:n.482-2887A>G | |
| XM_011534044.1:c.407-2887A>G | XP_011532346.1:n.407-2887A>G | |
| XM_011534045.1:c.350-2887A>G | XP_011532347.1:n.350-2887A>G | |
| XM_011534043.2:c.482-2887A>G | XP_011532345.1:n.482-2887A>G | |
| XM_011534045.3:c.350-2887A>G | XP_011532347.1:n.350-2887A>G | |
| XM_017007106.1:c.350-2887A>G | XP_016862595.1:n.350-2887A>G | |
| NM_003242.6:c.455-2887A>G MANE Select | NP_003233.4:n.455-2887A>G |