Linked Data
ClinVar Variation Id:
497756
dbSNP Id:
rs772286870
ExAC:
9:140685359 C / T
gnomAD v2:
9-140685359-C-T
gnomAD v3:
9-137790907-C-T
gnomAD v4:
9-137790907-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137790907C>T , CM000671.2:g.137790907C>T | GRCh38 |
| NC_000009.11:g.140685359C>T , CM000671.1:g.140685359C>T | GRCh37 |
| NC_000009.10:g.139805180C>T | NCBI36 |
| NG_011776.1:g.176916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2442C>T MANE Select | ENSP00000417980.1:p.Ala814= | |
| ENST00000636027.1:c.2328C>T | ENSP00000489961.1:p.Ala776= | |
| ENST00000636565.1:n.24C>T | ||
| ENST00000637161.1:c.2349C>T | ENSP00000490328.1:p.Ala783= | |
| ENST00000637261.1:c.2482C>T | ENSP00000490815.1:n.2482C>T | |
| ENST00000637891.1:c.336C>T | ENSP00000490907.1:p.Ala112= | |
| ENST00000637949.1:c.120C>T | ENSP00000489786.1:p.Ala40= | |
| ENST00000371394.6:c.*2177C>T | ENSP00000485945.1:n.*2177C>T | |
| ENST00000460843.5:c.2442C>T | ENSP00000417980.1:p.Ala814= | |
| ENST00000462942.3:c.1299C>T | ENSP00000436107.1:p.Ala433= | |
| ENST00000482340.5:c.12C>T | ENSP00000486748.1:p.Ala4= | |
| ENST00000486164.5:c.20C>T | ||
| ENST00000493484.5:c.12C>T | ENSP00000486503.1:p.Ala4= | |
| NM_024757.4:c.2442C>T | NP_079033.4:p.Ala814= | |
| XM_005266105.3:c.2433C>T | XP_005266162.1:p.Ala811= | |
| XM_005266110.1:c.2349C>T | XP_005266167.1:p.Ala783= | |
| XM_006717288.2:c.2424C>T | XP_006717351.1:p.Ala808= | |
| XM_011519021.1:c.2451C>T | XP_011517323.1:p.Ala817= | |
| XM_011519022.1:c.2448C>T | XP_011517324.1:p.Ala816= | |
| XM_011519023.1:c.2430C>T | XP_011517325.1:p.Ala810= | |
| XM_011519024.1:c.2373C>T | XP_011517326.1:p.Ala791= | |
| XM_011519025.1:c.2349C>T | XP_011517327.1:p.Ala783= | |
| XM_011519026.1:c.2307C>T | XP_011517328.1:p.Ala769= | |
| XM_011519027.1:c.2451C>T | XP_011517329.1:p.Ala817= | |
| XM_011519029.1:c.873C>T | XP_011517331.1:p.Ala291= | |
| XM_011519030.1:c.225C>T | XP_011517332.1:p.Ala75= | |
| XM_011519031.1:c.12C>T | XP_011517333.1:p.Ala4= | |
| XM_011519032.1:c.12C>T | XP_011517334.1:p.Ala4= | |
| XM_011519033.1:c.2286C>T | XP_011517335.1:p.Ala762= | |
| NM_001354259.1:c.2349C>T | NP_001341188.1:p.Ala783= | |
| NM_001354263.1:c.2421C>T | NP_001341192.1:p.Ala807= | |
| XM_005266105.5:c.2433C>T | XP_005266162.1:p.Ala811= | |
| XM_011519021.3:c.2451C>T | XP_011517323.1:p.Ala817= | |
| XM_011519022.3:c.2448C>T | XP_011517324.1:p.Ala816= | |
| XM_011519023.3:c.2430C>T | XP_011517325.1:p.Ala810= | |
| XM_011519029.3:c.873C>T | XP_011517331.1:p.Ala291= | |
| XM_011519030.3:c.225C>T | XP_011517332.1:p.Ala75= | |
| XM_017015134.1:c.2427C>T | XP_016870623.1:p.Ala809= | |
| XM_017015136.2:c.2343C>T | XP_016870625.1:p.Ala781= | |
| XM_017015137.1:c.2328C>T | XP_016870626.1:p.Ala776= | |
| XM_017015138.1:c.2328C>T | XP_016870627.1:p.Ala776= | |
| XM_024447674.1:c.2271C>T | XP_024303442.1:p.Ala757= | |
| XM_024447675.1:c.2205C>T | XP_024303443.1:p.Ala735= | |
| XM_024447676.1:c.1566C>T | XP_024303444.1:p.Ala522= | |
| XM_024447677.1:c.1566C>T | XP_024303445.1:p.Ala522= | |
| XM_024447678.1:c.2349C>T | XP_024303446.1:p.Ala783= | |
| XM_024447680.1:c.2184C>T | XP_024303448.1:p.Ala728= | |
| NM_024757.5:c.2442C>T MANE Select | NP_079033.4:p.Ala814= | |
| NM_001354259.2:c.2349C>T | NP_001341188.1:p.Ala783= | |
| NM_001354263.2:c.2421C>T | NP_001341192.1:p.Ala807= |