Linked Data
ClinVar Variation Id:
1018808
ClinVar RCV Id:
RCV001318164
dbSNP Id:
rs762795086
ExAC:
5:89988453 G / T
gnomAD v2:
5-89988453-G-T
gnomAD v3:
5-90692636-G-T
gnomAD v4:
5-90692636-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90692636G>T , CM000667.2:g.90692636G>T | GRCh38 |
| NC_000005.9:g.89988453G>T , CM000667.1:g.89988453G>T | GRCh37 |
| NC_000005.8:g.90024209G>T | NCBI36 |
| NG_007083.1:g.138837G>T | |
| NG_007083.2:g.168293G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.6983G>T MANE Select | ENSP00000384582.2:p.Gly2328Val | |
| ENST00000639431.1:c.265+16427G>T | ENSP00000491057.1:n.265+16427G>T | |
| ENST00000639473.1:n.2442G>T | ||
| ENST00000640012.1:c.790G>T | ||
| ENST00000640374.1:n.127G>T | ||
| ENST00000640403.1:c.4274G>T | ENSP00000492531.1:p.Gly1425Val | |
| ENST00000640779.1:c.1712G>T | ||
| ENST00000405460.6:c.6983G>T | ENSP00000384582.2:p.Gly2328Val | |
| NM_032119.3:c.6983G>T | NP_115495.3:p.Gly2328Val | |
| NR_003149.1:n.6996G>T | ||
| XM_011543675.1:c.6980G>T | XP_011541977.1:p.Gly2327Val | |
| XM_011543676.1:c.6902G>T | XP_011541978.1:p.Gly2301Val | |
| XM_011543677.1:c.4286G>T | XP_011541979.1:p.Gly1429Val | |
| XM_011543678.1:c.6983G>T | XP_011541980.1:p.Gly2328Val | |
| XM_011543679.1:c.6983G>T | XP_011541981.1:p.Gly2328Val | |
| NM_032119.4:c.6983G>T MANE Select | NP_115495.3:p.Gly2328Val | |
| XM_017009963.2:c.6983G>T | XP_016865452.1:p.Gly2328Val | |
| XM_017009964.2:c.6980G>T | XP_016865453.1:p.Gly2327Val | |
| XM_017009965.1:c.6980G>T | XP_016865454.1:p.Gly2327Val | |
| XM_017009966.2:c.6902G>T | XP_016865455.1:p.Gly2301Val | |
| XM_017009967.1:c.6887G>T | XP_016865456.1:p.Gly2296Val | |
| XM_017009968.2:c.6983G>T | XP_016865457.1:p.Gly2328Val | |
| XM_017009969.2:c.6983G>T | XP_016865458.1:p.Gly2328Val | |
| XM_017009970.2:c.6983G>T | XP_016865459.1:p.Gly2328Val | |
| XM_017009971.2:c.6983G>T | XP_016865460.1:p.Gly2328Val | |
| XM_017009972.1:c.101G>T | XP_016865461.1:p.Gly34Val | |
| XM_017009973.1:c.101G>T | XP_016865462.1:p.Gly34Val | |
| XM_017009974.2:c.6983G>T | XP_016865463.1:p.Gly2328Val | |
| NR_003149.2:n.6999G>T |