Linked Data
ClinVar Variation Id:
1944496
ClinVar RCV Id:
RCV002639795
dbSNP Id:
rs1287856640
gnomAD v2:
9-140671279-C-T
gnomAD v3:
9-137776827-C-T
gnomAD v4:
9-137776827-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137776827C>T , CM000671.2:g.137776827C>T | GRCh38 |
| NC_000009.11:g.140671279C>T , CM000671.1:g.140671279C>T | GRCh37 |
| NC_000009.10:g.139791100C>T | NCBI36 |
| NG_011776.1:g.162836C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2001C>T MANE Select | ENSP00000417980.1:p.Ala667= | |
| ENST00000636027.1:c.1887C>T | ENSP00000489961.1:p.Ala629= | |
| ENST00000637161.1:c.1908C>T | ENSP00000490328.1:p.Ala636= | |
| ENST00000637261.1:c.2041C>T | ENSP00000490815.1:n.2041C>T | |
| ENST00000638071.1:c.1628C>T | ||
| ENST00000640639.1:c.1170C>T | ENSP00000491823.1:p.Ala390= | |
| ENST00000371394.6:c.*1736C>T | ENSP00000485945.1:n.*1736C>T | |
| ENST00000460843.5:c.2001C>T | ENSP00000417980.1:p.Ala667= | |
| ENST00000462484.5:c.2001C>T | ENSP00000417328.1:p.Ala667= | |
| ENST00000462942.3:c.858C>T | ENSP00000436107.1:p.Ala286= | |
| ENST00000626603.1:n.1622G>A | ||
| NM_001145527.1:c.2001C>T | NP_001138999.1:p.Ala667= | |
| NM_024757.4:c.2001C>T | NP_079033.4:p.Ala667= | |
| XM_005266105.3:c.1992C>T | XP_005266162.1:p.Ala664= | |
| XM_005266110.1:c.1908C>T | XP_005266167.1:p.Ala636= | |
| XM_006717288.2:c.1983C>T | XP_006717351.1:p.Ala661= | |
| XM_011519021.1:c.2010C>T | XP_011517323.1:p.Ala670= | |
| XM_011519022.1:c.2007C>T | XP_011517324.1:p.Ala669= | |
| XM_011519023.1:c.1989C>T | XP_011517325.1:p.Ala663= | |
| XM_011519024.1:c.1932C>T | XP_011517326.1:p.Ala644= | |
| XM_011519025.1:c.1908C>T | XP_011517327.1:p.Ala636= | |
| XM_011519026.1:c.1866C>T | XP_011517328.1:p.Ala622= | |
| XM_011519027.1:c.2010C>T | XP_011517329.1:p.Ala670= | |
| XM_011519028.1:c.2010C>T | XP_011517330.1:p.Ala670= | |
| XM_011519029.1:c.432C>T | XP_011517331.1:p.Ala144= | |
| XM_011519033.1:c.1845C>T | XP_011517335.1:p.Ala615= | |
| NM_001354259.1:c.1908C>T | NP_001341188.1:p.Ala636= | |
| NM_001354263.1:c.1980C>T | NP_001341192.1:p.Ala660= | |
| XM_005266105.5:c.1992C>T | XP_005266162.1:p.Ala664= | |
| XM_011519021.3:c.2010C>T | XP_011517323.1:p.Ala670= | |
| XM_011519022.3:c.2007C>T | XP_011517324.1:p.Ala669= | |
| XM_011519023.3:c.1989C>T | XP_011517325.1:p.Ala663= | |
| XM_011519029.3:c.432C>T | XP_011517331.1:p.Ala144= | |
| XM_017015134.1:c.1986C>T | XP_016870623.1:p.Ala662= | |
| XM_017015136.2:c.1902C>T | XP_016870625.1:p.Ala634= | |
| XM_017015137.1:c.1887C>T | XP_016870626.1:p.Ala629= | |
| XM_017015138.1:c.1887C>T | XP_016870627.1:p.Ala629= | |
| XM_024447674.1:c.1830C>T | XP_024303442.1:p.Ala610= | |
| XM_024447675.1:c.1764C>T | XP_024303443.1:p.Ala588= | |
| XM_024447676.1:c.1125C>T | XP_024303444.1:p.Ala375= | |
| XM_024447677.1:c.1125C>T | XP_024303445.1:p.Ala375= | |
| XM_024447678.1:c.1908C>T | XP_024303446.1:p.Ala636= | |
| XM_024447679.1:c.1908C>T | XP_024303447.1:p.Ala636= | |
| XM_024447680.1:c.1743C>T | XP_024303448.1:p.Ala581= | |
| NM_024757.5:c.2001C>T MANE Select | NP_079033.4:p.Ala667= | |
| NM_001145527.2:c.2001C>T | NP_001138999.1:p.Ala667= | |
| NM_001354259.2:c.1908C>T | NP_001341188.1:p.Ala636= | |
| NM_001354263.2:c.1980C>T | NP_001341192.1:p.Ala660= |