Linked Data
ClinVar Variation Id:
1310280
dbSNP Id:
rs1399162372
gnomAD v3:
9-137776709-C-T
gnomAD v4:
9-137776709-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137776709C>T , CM000671.2:g.137776709C>T | GRCh38 |
| NC_000009.11:g.140671161C>T , CM000671.1:g.140671161C>T | GRCh37 |
| NC_000009.10:g.139790982C>T | NCBI36 |
| NG_011776.1:g.162718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.1883C>T MANE Select | ENSP00000417980.1:p.Pro628Leu | |
| ENST00000636027.1:c.1769C>T | ENSP00000489961.1:p.Pro590Leu | |
| ENST00000637161.1:c.1790C>T | ENSP00000490328.1:p.Pro597Leu | |
| ENST00000637261.1:c.1923C>T | ENSP00000490815.1:n.1923C>T | |
| ENST00000638071.1:c.1510C>T | ||
| ENST00000640639.1:c.1052C>T | ENSP00000491823.1:p.Pro351Leu | |
| ENST00000371394.6:c.*1618C>T | ENSP00000485945.1:n.*1618C>T | |
| ENST00000460843.5:c.1883C>T | ENSP00000417980.1:p.Pro628Leu | |
| ENST00000462484.5:c.1883C>T | ENSP00000417328.1:p.Pro628Leu | |
| ENST00000462942.3:c.740C>T | ENSP00000436107.1:p.Pro247Leu | |
| ENST00000465566.2:c.431C>T | ENSP00000486261.1:p.Pro144Leu | |
| ENST00000626603.1:n.1740G>A | ||
| NM_001145527.1:c.1883C>T | NP_001138999.1:p.Pro628Leu | |
| NM_024757.4:c.1883C>T | NP_079033.4:p.Pro628Leu | |
| XM_005266105.3:c.1874C>T | XP_005266162.1:p.Pro625Leu | |
| XM_005266110.1:c.1790C>T | XP_005266167.1:p.Pro597Leu | |
| XM_006717288.2:c.1865C>T | XP_006717351.1:p.Pro622Leu | |
| XM_011519021.1:c.1892C>T | XP_011517323.1:p.Pro631Leu | |
| XM_011519022.1:c.1889C>T | XP_011517324.1:p.Pro630Leu | |
| XM_011519023.1:c.1871C>T | XP_011517325.1:p.Pro624Leu | |
| XM_011519024.1:c.1814C>T | XP_011517326.1:p.Pro605Leu | |
| XM_011519025.1:c.1790C>T | XP_011517327.1:p.Pro597Leu | |
| XM_011519026.1:c.1748C>T | XP_011517328.1:p.Pro583Leu | |
| XM_011519027.1:c.1892C>T | XP_011517329.1:p.Pro631Leu | |
| XM_011519028.1:c.1892C>T | XP_011517330.1:p.Pro631Leu | |
| XM_011519029.1:c.314C>T | XP_011517331.1:p.Pro105Leu | |
| XM_011519033.1:c.1727C>T | XP_011517335.1:p.Pro576Leu | |
| NM_001354259.1:c.1790C>T | NP_001341188.1:p.Pro597Leu | |
| NM_001354263.1:c.1862C>T | NP_001341192.1:p.Pro621Leu | |
| XM_005266105.5:c.1874C>T | XP_005266162.1:p.Pro625Leu | |
| XM_011519021.3:c.1892C>T | XP_011517323.1:p.Pro631Leu | |
| XM_011519022.3:c.1889C>T | XP_011517324.1:p.Pro630Leu | |
| XM_011519023.3:c.1871C>T | XP_011517325.1:p.Pro624Leu | |
| XM_011519029.3:c.314C>T | XP_011517331.1:p.Pro105Leu | |
| XM_017015134.1:c.1868C>T | XP_016870623.1:p.Pro623Leu | |
| XM_017015136.2:c.1784C>T | XP_016870625.1:p.Pro595Leu | |
| XM_017015137.1:c.1769C>T | XP_016870626.1:p.Pro590Leu | |
| XM_017015138.1:c.1769C>T | XP_016870627.1:p.Pro590Leu | |
| XM_024447674.1:c.1712C>T | XP_024303442.1:p.Pro571Leu | |
| XM_024447675.1:c.1646C>T | XP_024303443.1:p.Pro549Leu | |
| XM_024447676.1:c.1007C>T | XP_024303444.1:p.Pro336Leu | |
| XM_024447677.1:c.1007C>T | XP_024303445.1:p.Pro336Leu | |
| XM_024447678.1:c.1790C>T | XP_024303446.1:p.Pro597Leu | |
| XM_024447679.1:c.1790C>T | XP_024303447.1:p.Pro597Leu | |
| XM_024447680.1:c.1625C>T | XP_024303448.1:p.Pro542Leu | |
| NM_024757.5:c.1883C>T MANE Select | NP_079033.4:p.Pro628Leu | |
| NM_001145527.2:c.1883C>T | NP_001138999.1:p.Pro628Leu | |
| NM_001354259.2:c.1790C>T | NP_001341188.1:p.Pro597Leu | |
| NM_001354263.2:c.1862C>T | NP_001341192.1:p.Pro621Leu |