Linked Data
ClinVar Variation Id:
1956742
ClinVar RCV Id:
RCV002705772
gnomAD v4:
9-137776698-C-T
MyVariant Identifiers:
chr9:g.140671150C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137776698C>T , CM000671.2:g.137776698C>T | GRCh38 |
| NC_000009.11:g.140671150C>T , CM000671.1:g.140671150C>T | GRCh37 |
| NC_000009.10:g.139790971C>T | NCBI36 |
| NG_011776.1:g.162707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.1872C>T MANE Select | ENSP00000417980.1:p.Ala624= | |
| ENST00000636027.1:c.1758C>T | ENSP00000489961.1:p.Ala586= | |
| ENST00000637161.1:c.1779C>T | ENSP00000490328.1:p.Ala593= | |
| ENST00000637261.1:c.1912C>T | ENSP00000490815.1:n.1912C>T | |
| ENST00000638071.1:c.1499C>T | ||
| ENST00000640639.1:c.1041C>T | ENSP00000491823.1:p.Ala347= | |
| ENST00000371394.6:c.*1607C>T | ENSP00000485945.1:n.*1607C>T | |
| ENST00000460843.5:c.1872C>T | ENSP00000417980.1:p.Ala624= | |
| ENST00000462484.5:c.1872C>T | ENSP00000417328.1:p.Ala624= | |
| ENST00000462942.3:c.729C>T | ENSP00000436107.1:p.Ala243= | |
| ENST00000465566.2:c.420C>T | ENSP00000486261.1:p.Ala140= | |
| ENST00000626603.1:n.1751G>A | ||
| NM_001145527.1:c.1872C>T | NP_001138999.1:p.Ala624= | |
| NM_024757.4:c.1872C>T | NP_079033.4:p.Ala624= | |
| XM_005266105.3:c.1863C>T | XP_005266162.1:p.Ala621= | |
| XM_005266110.1:c.1779C>T | XP_005266167.1:p.Ala593= | |
| XM_006717288.2:c.1854C>T | XP_006717351.1:p.Ala618= | |
| XM_011519021.1:c.1881C>T | XP_011517323.1:p.Ala627= | |
| XM_011519022.1:c.1878C>T | XP_011517324.1:p.Ala626= | |
| XM_011519023.1:c.1860C>T | XP_011517325.1:p.Ala620= | |
| XM_011519024.1:c.1803C>T | XP_011517326.1:p.Ala601= | |
| XM_011519025.1:c.1779C>T | XP_011517327.1:p.Ala593= | |
| XM_011519026.1:c.1737C>T | XP_011517328.1:p.Ala579= | |
| XM_011519027.1:c.1881C>T | XP_011517329.1:p.Ala627= | |
| XM_011519028.1:c.1881C>T | XP_011517330.1:p.Ala627= | |
| XM_011519029.1:c.303C>T | XP_011517331.1:p.Ala101= | |
| XM_011519033.1:c.1716C>T | XP_011517335.1:p.Ala572= | |
| NM_001354259.1:c.1779C>T | NP_001341188.1:p.Ala593= | |
| NM_001354263.1:c.1851C>T | NP_001341192.1:p.Ala617= | |
| XM_005266105.5:c.1863C>T | XP_005266162.1:p.Ala621= | |
| XM_011519021.3:c.1881C>T | XP_011517323.1:p.Ala627= | |
| XM_011519022.3:c.1878C>T | XP_011517324.1:p.Ala626= | |
| XM_011519023.3:c.1860C>T | XP_011517325.1:p.Ala620= | |
| XM_011519029.3:c.303C>T | XP_011517331.1:p.Ala101= | |
| XM_017015134.1:c.1857C>T | XP_016870623.1:p.Ala619= | |
| XM_017015136.2:c.1773C>T | XP_016870625.1:p.Ala591= | |
| XM_017015137.1:c.1758C>T | XP_016870626.1:p.Ala586= | |
| XM_017015138.1:c.1758C>T | XP_016870627.1:p.Ala586= | |
| XM_024447674.1:c.1701C>T | XP_024303442.1:p.Ala567= | |
| XM_024447675.1:c.1635C>T | XP_024303443.1:p.Ala545= | |
| XM_024447676.1:c.996C>T | XP_024303444.1:p.Ala332= | |
| XM_024447677.1:c.996C>T | XP_024303445.1:p.Ala332= | |
| XM_024447678.1:c.1779C>T | XP_024303446.1:p.Ala593= | |
| XM_024447679.1:c.1779C>T | XP_024303447.1:p.Ala593= | |
| XM_024447680.1:c.1614C>T | XP_024303448.1:p.Ala538= | |
| NM_024757.5:c.1872C>T MANE Select | NP_079033.4:p.Ala624= | |
| NM_001145527.2:c.1872C>T | NP_001138999.1:p.Ala624= | |
| NM_001354259.2:c.1779C>T | NP_001341188.1:p.Ala593= | |
| NM_001354263.2:c.1851C>T | NP_001341192.1:p.Ala617= |