ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108894062G>A , CM000671.2:g.108894062G>A | GRCh38 |
| NC_000009.11:g.111656342G>A , CM000671.1:g.111656342G>A | GRCh37 |
| NC_000009.10:g.110696163G>A | NCBI36 |
| NG_008788.1:g.45267C>T , LRG_251:g.45267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.2741C>T MANE Select | ENSP00000363779.5:p.Pro914Leu | |
| ENST00000495759.6:c.*1351C>T | ENSP00000433514.2:n.*1351C>T | |
| ENST00000674535.1:c.2741C>T | ENSP00000502142.1:p.Pro914Leu | |
| ENST00000674704.1:n.5826C>T | ||
| ENST00000674836.1:n.3354C>T | ||
| ENST00000674890.1:c.2763C>T | ENSP00000501870.1:p.Ser921= | |
| ENST00000674938.1:c.2399C>T | ENSP00000502427.1:p.Pro800Leu | |
| ENST00000674948.1:c.2399C>T | ENSP00000501602.1:p.Pro800Leu | |
| ENST00000675052.1:c.2741C>T | ENSP00000502664.1:p.Pro914Leu | |
| ENST00000675078.1:c.2741C>T | ENSP00000501549.1:p.Pro914Leu | |
| ENST00000675215.1:c.*1965C>T | ENSP00000502558.1:n.*1965C>T | |
| ENST00000675233.1:n.4568C>T | ||
| ENST00000675321.1:c.2741C>T | ENSP00000502751.1:p.Pro914Leu | |
| ENST00000675325.1:n.4698C>T | ||
| ENST00000675335.1:c.2772C>T | ENSP00000502182.1:n.2772C>T | |
| ENST00000675400.1:n.4476C>T | ||
| ENST00000675406.1:c.2741C>T | ENSP00000501893.1:p.Pro914Leu | |
| ENST00000675458.1:c.2834C>T | ENSP00000501754.1:n.2834C>T | |
| ENST00000675507.1:n.4537C>T | ||
| ENST00000675535.1:c.*368C>T | ENSP00000501667.1:n.*368C>T | |
| ENST00000675566.1:n.4599C>T | ||
| ENST00000675602.1:n.5789C>T | ||
| ENST00000675647.1:n.3046C>T | ||
| ENST00000675711.1:c.2741C>T | ENSP00000502485.1:p.Pro914Leu | |
| ENST00000675727.1:c.2741C>T | ENSP00000501722.1:p.Pro914Leu | |
| ENST00000675748.1:n.4375C>T | ||
| ENST00000675765.1:c.*124C>T | ENSP00000502640.1:n.*124C>T | |
| ENST00000675825.1:c.2741C>T | ENSP00000502632.1:p.Pro914Leu | |
| ENST00000675877.1:n.3046C>T | ||
| ENST00000675893.1:c.*3810C>T | ENSP00000502001.1:n.*3810C>T | |
| ENST00000675943.1:n.6356C>T | ||
| ENST00000675979.1:c.*1984C>T | ENSP00000502208.1:n.*1984C>T | |
| ENST00000676044.1:c.*401C>T | ENSP00000502378.1:n.*401C>T | |
| ENST00000676086.1:n.4526C>T | ||
| ENST00000676121.1:n.4569C>T | ||
| ENST00000676237.1:c.2642C>T | ENSP00000501828.1:p.Pro881Leu | |
| ENST00000676416.1:c.2399C>T | ENSP00000501660.1:p.Pro800Leu | |
| ENST00000676424.1:n.4537C>T | ||
| ENST00000676429.1:n.7210C>T | ||
| ENST00000374647.9:c.2741C>T | ENSP00000363779.5:p.Pro914Leu | |
| ENST00000537196.1:c.1694C>T | ENSP00000439367.1:p.Pro565Leu | |
| NM_003640.3:c.2741C>T , LRG_251t1:c.2741C>T | NP_003631.2:p.Pro914Leu | |
| XM_005252285.2:c.2399C>T | XP_005252342.1:p.Pro800Leu | |
| XM_011519136.1:c.2741C>T | XP_011517438.1:p.Pro914Leu | |
| XM_011519137.1:c.2399C>T | XP_011517439.1:p.Pro800Leu | |
| XR_929859.1:n.3119C>T | ||
| NM_001318360.1:c.2399C>T | NP_001305289.1:p.Pro800Leu | |
| NM_001330749.1:c.1694C>T | NP_001317678.1:p.Pro565Leu | |
| NM_003640.4:c.2741C>T | NP_003631.2:p.Pro914Leu | |
| XM_011519136.2:c.2741C>T | XP_011517438.1:p.Pro914Leu | |
| XR_929859.3:n.3130C>T | ||
| NM_003640.5:c.2741C>T MANE Select | NP_003631.2:p.Pro914Leu | |
| NM_001318360.2:c.2399C>T | NP_001305289.1:p.Pro800Leu | |
| NM_001330749.2:c.1694C>T | NP_001317678.1:p.Pro565Leu |