Linked Data
ClinVar Variation Id:
1707693
ClinVar RCV Id:
RCV002286672
dbSNP Id:
rs369179457
ExAC:
5:131728181 G / A
gnomAD v2:
5-131728181-G-A
gnomAD v3:
5-132392489-G-A
gnomAD v4:
5-132392489-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132392489G>A , CM000667.2:g.132392489G>A | GRCh38 |
| NC_000005.9:g.131728181G>A , CM000667.1:g.131728181G>A | GRCh37 |
| NC_000005.8:g.131756080G>A | NCBI36 |
| NG_008982.1:g.27781G>A | |
| NG_008982.2:g.27786G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1165G>A | ENSP00000388838.2:p.Ala389Thr | |
| ENST00000435065.7:c.1396G>A | ENSP00000402760.2:p.Ala466Thr | |
| ENST00000448810.6:c.*176G>A | ENSP00000401860.2:n.*176G>A | |
| ENST00000685543.1:n.1465G>A | ||
| ENST00000686757.1:c.*488G>A | ENSP00000510721.1:n.*488G>A | |
| ENST00000687740.1:n.4009G>A | ||
| ENST00000688151.1:n.2634G>A | ||
| ENST00000689271.1:c.1171G>A | ENSP00000510797.1:p.Ala391Thr | |
| ENST00000690900.1:c.*488G>A | ENSP00000510703.1:n.*488G>A | |
| ENST00000692212.1:n.4464G>A | ||
| ENST00000692355.1:c.577G>A | ||
| ENST00000692413.1:c.1306G>A | ENSP00000509374.1:p.Ala436Thr | |
| ENST00000692825.1:c.1392G>A | ENSP00000509447.1:n.1392G>A | |
| ENST00000693308.1:c.1372G>A | ENSP00000509770.1:p.Ala458Thr | |
| ENST00000693763.1:n.2484G>A | ||
| ENST00000245407.8:c.1324G>A MANE Select | ENSP00000245407.3:p.Ala442Thr | |
| ENST00000245407.7:c.1324G>A | ENSP00000245407.3:p.Ala442Thr | |
| ENST00000435065.6:c.1396G>A | ENSP00000402760.2:p.Ala466Thr | |
| ENST00000447841.5:c.168G>A | ||
| ENST00000448810.5:c.586G>A | ||
| ENST00000461013.5:n.8746G>A | ||
| ENST00000475308.1:n.2002G>A | ||
| ENST00000479605.5:n.427G>A | ||
| NM_001308122.1:c.1396G>A | NP_001295051.1:p.Ala466Thr | |
| NM_003060.3:c.1324G>A | NP_003051.1:p.Ala442Thr | |
| XM_011543590.1:c.706G>A | XP_011541892.1:p.Ala236Thr | |
| XR_948290.1:n.1450G>A | ||
| XM_011543590.2:c.706G>A | XP_011541892.1:p.Ala236Thr | |
| XM_017009778.2:c.796G>A | XP_016865267.1:p.Ala266Thr | |
| XR_001742215.1:n.1579G>A | ||
| XR_001742216.1:n.1598G>A | ||
| XR_427718.2:n.1684G>A | ||
| XR_948290.2:n.1450G>A | ||
| XR_948291.2:n.1678G>A | ||
| NM_003060.4:c.1324G>A MANE Select | NP_003051.1:p.Ala442Thr | |
| NM_001308122.2:c.1396G>A | NP_001295051.1:p.Ala466Thr |