Linked Data
dbSNP Id:
rs1390087009
gnomAD v2:
5-89988220-C-A
gnomAD v3:
5-90692403-C-A
gnomAD v4:
5-90692403-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90692403C>A , CM000667.2:g.90692403C>A | GRCh38 |
| NC_000005.9:g.89988220C>A , CM000667.1:g.89988220C>A | GRCh37 |
| NC_000005.8:g.90023976C>A | NCBI36 |
| NG_007083.1:g.138604C>A | |
| NG_007083.2:g.168060C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.6952-202C>A MANE Select | ENSP00000384582.2:n.6952-202C>A | |
| ENST00000639431.1:c.265+16194C>A | ENSP00000491057.1:n.265+16194C>A | |
| ENST00000639473.1:n.2411-202C>A | ||
| ENST00000640012.1:c.759-202C>A | ||
| ENST00000640374.1:n.96-202C>A | ||
| ENST00000640403.1:c.4243-202C>A | ENSP00000492531.1:n.4243-202C>A | |
| ENST00000640779.1:c.1681-202C>A | ||
| ENST00000405460.6:c.6952-202C>A | ENSP00000384582.2:n.6952-202C>A | |
| NM_032119.3:c.6952-202C>A | NP_115495.3:n.6952-202C>A | |
| NR_003149.1:n.6965-202C>A | ||
| XM_011543675.1:c.6949-202C>A | XP_011541977.1:n.6949-202C>A | |
| XM_011543676.1:c.6871-202C>A | XP_011541978.1:n.6871-202C>A | |
| XM_011543677.1:c.4255-202C>A | XP_011541979.1:n.4255-202C>A | |
| XM_011543678.1:c.6952-202C>A | XP_011541980.1:n.6952-202C>A | |
| XM_011543679.1:c.6952-202C>A | XP_011541981.1:n.6952-202C>A | |
| NM_032119.4:c.6952-202C>A MANE Select | NP_115495.3:n.6952-202C>A | |
| XM_017009963.2:c.6952-202C>A | XP_016865452.1:n.6952-202C>A | |
| XM_017009964.2:c.6949-202C>A | XP_016865453.1:n.6949-202C>A | |
| XM_017009965.1:c.6949-202C>A | XP_016865454.1:n.6949-202C>A | |
| XM_017009966.2:c.6871-202C>A | XP_016865455.1:n.6871-202C>A | |
| XM_017009967.1:c.6856-202C>A | XP_016865456.1:n.6856-202C>A | |
| XM_017009968.2:c.6952-202C>A | XP_016865457.1:n.6952-202C>A | |
| XM_017009969.2:c.6952-202C>A | XP_016865458.1:n.6952-202C>A | |
| XM_017009970.2:c.6952-202C>A | XP_016865459.1:n.6952-202C>A | |
| XM_017009971.2:c.6952-202C>A | XP_016865460.1:n.6952-202C>A | |
| XM_017009972.1:c.70-202C>A | XP_016865461.1:n.70-202C>A | |
| XM_017009973.1:c.70-202C>A | XP_016865462.1:n.70-202C>A | |
| XM_017009974.2:c.6952-202C>A | XP_016865463.1:n.6952-202C>A | |
| NR_003149.2:n.6968-202C>A |