Linked Data
ClinVar Variation Id:
46373
dbSNP Id:
rs143632883
ExAC:
5:89990041 G / A
gnomAD v2:
5-89990041-G-A
gnomAD v3:
5-90694224-G-A
gnomAD v4:
5-90694224-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90694224G>A , CM000667.2:g.90694224G>A | GRCh38 |
| NC_000005.9:g.89990041G>A , CM000667.1:g.89990041G>A | GRCh37 |
| NC_000005.8:g.90025797G>A | NCBI36 |
| NG_007083.1:g.140425G>A | |
| NG_007083.2:g.169881G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.7468G>A MANE Select | ENSP00000384582.2:p.Ala2490Thr | |
| ENST00000639431.1:c.265+18015G>A | ENSP00000491057.1:n.265+18015G>A | |
| ENST00000639473.1:n.2927G>A | ||
| ENST00000640012.1:c.1275G>A | ||
| ENST00000640374.1:n.612G>A | ||
| ENST00000640403.1:c.4759G>A | ENSP00000492531.1:p.Ala1587Thr | |
| ENST00000640779.1:c.2197G>A | ||
| ENST00000405460.6:c.7468G>A | ENSP00000384582.2:p.Ala2490Thr | |
| ENST00000509621.1:c.165G>A | ||
| NM_032119.3:c.7468G>A | NP_115495.3:p.Ala2490Thr | |
| NR_003149.1:n.7481G>A | ||
| XM_011543675.1:c.7465G>A | XP_011541977.1:p.Ala2489Thr | |
| XM_011543676.1:c.7387G>A | XP_011541978.1:p.Ala2463Thr | |
| XM_011543677.1:c.4771G>A | XP_011541979.1:p.Ala1591Thr | |
| XM_011543678.1:c.7468G>A | XP_011541980.1:p.Ala2490Thr | |
| XM_011543679.1:c.7468G>A | XP_011541981.1:p.Ala2490Thr | |
| NM_032119.4:c.7468G>A MANE Select | NP_115495.3:p.Ala2490Thr | |
| XM_017009963.2:c.7468G>A | XP_016865452.1:p.Ala2490Thr | |
| XM_017009964.2:c.7465G>A | XP_016865453.1:p.Ala2489Thr | |
| XM_017009965.1:c.7465G>A | XP_016865454.1:p.Ala2489Thr | |
| XM_017009966.2:c.7387G>A | XP_016865455.1:p.Ala2463Thr | |
| XM_017009967.1:c.7372G>A | XP_016865456.1:p.Ala2458Thr | |
| XM_017009968.2:c.7468G>A | XP_016865457.1:p.Ala2490Thr | |
| XM_017009969.2:c.7468G>A | XP_016865458.1:p.Ala2490Thr | |
| XM_017009970.2:c.7468G>A | XP_016865459.1:p.Ala2490Thr | |
| XM_017009971.2:c.7468G>A | XP_016865460.1:p.Ala2490Thr | |
| XM_017009972.1:c.586G>A | XP_016865461.1:p.Ala196Thr | |
| XM_017009973.1:c.586G>A | XP_016865462.1:p.Ala196Thr | |
| XM_017009974.2:c.7468G>A | XP_016865463.1:p.Ala2490Thr | |
| NR_003149.2:n.7484G>A |