Linked Data
ClinVar Variation Id:
504578
dbSNP Id:
rs201516498
ExAC:
5:89943472 G / A
gnomAD v2:
5-89943472-G-A
gnomAD v3:
5-90647655-G-A
gnomAD v4:
5-90647655-G-A
COSMIC:
COSM3856824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90647655G>A , CM000667.2:g.90647655G>A | GRCh38 |
| NC_000005.9:g.89943472G>A , CM000667.1:g.89943472G>A | GRCh37 |
| NC_000005.8:g.89979228G>A | NCBI36 |
| NG_007083.1:g.93856G>A | |
| NG_007083.2:g.123312G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.3180G>A MANE Select | ENSP00000384582.2:p.Thr1060= | |
| ENST00000504142.2:n.1946G>A | ||
| ENST00000639676.1:n.778G>A | ||
| ENST00000640403.1:c.483G>A | ENSP00000492531.1:p.Thr161= | |
| ENST00000405460.6:c.3180G>A | ENSP00000384582.2:p.Thr1060= | |
| ENST00000504142.1:c.1945G>A | ||
| NM_032119.3:c.3180G>A | NP_115495.3:p.Thr1060= | |
| NR_003149.1:n.3276G>A | ||
| XM_011543675.1:c.3180G>A | XP_011541977.1:p.Thr1060= | |
| XM_011543676.1:c.3180G>A | XP_011541978.1:p.Thr1060= | |
| XM_011543677.1:c.483G>A | XP_011541979.1:p.Thr161= | |
| XM_011543678.1:c.3180G>A | XP_011541980.1:p.Thr1060= | |
| XM_011543679.1:c.3180G>A | XP_011541981.1:p.Thr1060= | |
| NM_032119.4:c.3180G>A MANE Select | NP_115495.3:p.Thr1060= | |
| XM_017009963.2:c.3180G>A | XP_016865452.1:p.Thr1060= | |
| XM_017009964.2:c.3180G>A | XP_016865453.1:p.Thr1060= | |
| XM_017009965.1:c.3177G>A | XP_016865454.1:p.Thr1059= | |
| XM_017009966.2:c.3180G>A | XP_016865455.1:p.Thr1060= | |
| XM_017009967.1:c.3084G>A | XP_016865456.1:p.Thr1028= | |
| XM_017009968.2:c.3180G>A | XP_016865457.1:p.Thr1060= | |
| XM_017009969.2:c.3180G>A | XP_016865458.1:p.Thr1060= | |
| XM_017009970.2:c.3180G>A | XP_016865459.1:p.Thr1060= | |
| XM_017009971.2:c.3180G>A | XP_016865460.1:p.Thr1060= | |
| XM_017009974.2:c.3180G>A | XP_016865463.1:p.Thr1060= | |
| NR_003149.2:n.3279G>A |