Linked Data
ClinVar Variation Id:
435099
dbSNP Id:
rs201196326
ExAC:
12:12037526 A / G
gnomAD v2:
12-12037526-A-G
gnomAD v3:
12-11884592-A-G
gnomAD v4:
12-11884592-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.11884592A>G , CM000674.2:g.11884592A>G | GRCh38 |
| NC_000012.11:g.12037526A>G , CM000674.1:g.12037526A>G | GRCh37 |
| NC_000012.10:g.11928793A>G | NCBI36 |
| NG_011443.1:g.239739A>G , LRG_609:g.239739A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396373.9:c.1152+5A>G MANE Select | ENSP00000379658.3:n.1152+5A>G | |
| ENST00000396373.8:c.1152+5A>G | ENSP00000379658.3:n.1152+5A>G | |
| NM_001987.4:c.1152+5A>G , LRG_609t1:c.1152+5A>G | NP_001978.1:n.1152+5A>G | |
| XM_011520607.1:c.1149+5A>G | XP_011518909.1:n.1149+5A>G | |
| XM_011520608.1:c.1125+5A>G | XP_011518910.1:n.1125+5A>G | |
| XM_011520609.1:c.888+5A>G | XP_011518911.1:n.888+5A>G | |
| XM_011520610.1:c.888+5A>G | XP_011518912.1:n.888+5A>G | |
| XM_011520611.1:c.888+5A>G | XP_011518913.1:n.888+5A>G | |
| XM_011520612.1:c.531+5A>G | XP_011518914.1:n.531+5A>G | |
| XM_011520607.2:c.1149+5A>G | XP_011518909.1:n.1149+5A>G | |
| XM_011520608.2:c.1125+5A>G | XP_011518910.1:n.1125+5A>G | |
| XM_011520609.2:c.888+5A>G | XP_011518911.1:n.888+5A>G | |
| XM_011520611.2:c.888+5A>G | XP_011518913.1:n.888+5A>G | |
| XM_011520612.2:c.531+5A>G | XP_011518914.1:n.531+5A>G | |
| XM_017018990.1:c.1017+5A>G | XP_016874479.1:n.1017+5A>G | |
| XM_017018991.1:c.888+5A>G | XP_016874480.1:n.888+5A>G | |
| NM_001987.5:c.1152+5A>G MANE Select | NP_001978.1:n.1152+5A>G |