Linked Data
ClinVar Variation Id:
96147
dbSNP Id:
rs398124404
ExAC:
9:140672501 C / T
gnomAD v2:
9-140672501-C-T
gnomAD v3:
9-137778049-C-T
gnomAD v4:
9-137778049-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137778049C>T , CM000671.2:g.137778049C>T | GRCh38 |
| NC_000009.11:g.140672501C>T , CM000671.1:g.140672501C>T | GRCh37 |
| NC_000009.10:g.139792322C>T | NCBI36 |
| NG_011776.1:g.164058C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2186C>T MANE Select | ENSP00000417980.1:p.Ser729Leu | |
| ENST00000636027.1:c.2072C>T | ENSP00000489961.1:p.Ser691Leu | |
| ENST00000637161.1:c.2093C>T | ENSP00000490328.1:p.Ser698Leu | |
| ENST00000637261.1:c.2226C>T | ENSP00000490815.1:n.2226C>T | |
| ENST00000637891.1:c.80C>T | ENSP00000490907.1:p.Ser27Leu | |
| ENST00000371394.6:c.*1921C>T | ENSP00000485945.1:n.*1921C>T | |
| ENST00000460843.5:c.2186C>T | ENSP00000417980.1:p.Ser729Leu | |
| ENST00000462484.5:c.2186C>T | ENSP00000417328.1:p.Ser729Leu | |
| ENST00000462942.3:c.1043C>T | ENSP00000436107.1:p.Ser348Leu | |
| ENST00000626603.1:n.1061-661G>A | ||
| NM_001145527.1:c.2186C>T | NP_001138999.1:p.Ser729Leu | |
| NM_024757.4:c.2186C>T | NP_079033.4:p.Ser729Leu | |
| XM_005266105.3:c.2177C>T | XP_005266162.1:p.Ser726Leu | |
| XM_005266110.1:c.2093C>T | XP_005266167.1:p.Ser698Leu | |
| XM_006717288.2:c.2168C>T | XP_006717351.1:p.Ser723Leu | |
| XM_011519021.1:c.2195C>T | XP_011517323.1:p.Ser732Leu | |
| XM_011519022.1:c.2192C>T | XP_011517324.1:p.Ser731Leu | |
| XM_011519023.1:c.2174C>T | XP_011517325.1:p.Ser725Leu | |
| XM_011519024.1:c.2117C>T | XP_011517326.1:p.Ser706Leu | |
| XM_011519025.1:c.2093C>T | XP_011517327.1:p.Ser698Leu | |
| XM_011519026.1:c.2051C>T | XP_011517328.1:p.Ser684Leu | |
| XM_011519027.1:c.2195C>T | XP_011517329.1:p.Ser732Leu | |
| XM_011519028.1:c.2195C>T | XP_011517330.1:p.Ser732Leu | |
| XM_011519029.1:c.617C>T | XP_011517331.1:p.Ser206Leu | |
| XM_011519033.1:c.2030C>T | XP_011517335.1:p.Ser677Leu | |
| NM_001354259.1:c.2093C>T | NP_001341188.1:p.Ser698Leu | |
| NM_001354263.1:c.2165C>T | NP_001341192.1:p.Ser722Leu | |
| XM_005266105.5:c.2177C>T | XP_005266162.1:p.Ser726Leu | |
| XM_011519021.3:c.2195C>T | XP_011517323.1:p.Ser732Leu | |
| XM_011519022.3:c.2192C>T | XP_011517324.1:p.Ser731Leu | |
| XM_011519023.3:c.2174C>T | XP_011517325.1:p.Ser725Leu | |
| XM_011519029.3:c.617C>T | XP_011517331.1:p.Ser206Leu | |
| XM_017015134.1:c.2171C>T | XP_016870623.1:p.Ser724Leu | |
| XM_017015136.2:c.2087C>T | XP_016870625.1:p.Ser696Leu | |
| XM_017015137.1:c.2072C>T | XP_016870626.1:p.Ser691Leu | |
| XM_017015138.1:c.2072C>T | XP_016870627.1:p.Ser691Leu | |
| XM_024447674.1:c.2015C>T | XP_024303442.1:p.Ser672Leu | |
| XM_024447675.1:c.1949C>T | XP_024303443.1:p.Ser650Leu | |
| XM_024447676.1:c.1310C>T | XP_024303444.1:p.Ser437Leu | |
| XM_024447677.1:c.1310C>T | XP_024303445.1:p.Ser437Leu | |
| XM_024447678.1:c.2093C>T | XP_024303446.1:p.Ser698Leu | |
| XM_024447679.1:c.2093C>T | XP_024303447.1:p.Ser698Leu | |
| XM_024447680.1:c.1928C>T | XP_024303448.1:p.Ser643Leu | |
| NM_024757.5:c.2186C>T MANE Select | NP_079033.4:p.Ser729Leu | |
| NM_001145527.2:c.2186C>T | NP_001138999.1:p.Ser729Leu | |
| NM_001354259.2:c.2093C>T | NP_001341188.1:p.Ser698Leu | |
| NM_001354263.2:c.2165C>T | NP_001341192.1:p.Ser722Leu |