Linked Data
ClinVar Variation Id:
191071
ClinVar RCV Id:
RCV000171251
dbSNP Id:
rs786205501
gnomAD v2:
17-19559830-T-C
gnomAD v3:
17-19656517-T-C
gnomAD v4:
17-19656517-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19656517T>C , CM000679.2:g.19656517T>C | GRCh38 |
| NC_000017.10:g.19559830T>C , CM000679.1:g.19559830T>C | GRCh37 |
| NC_000017.9:g.19500422T>C | NCBI36 |
| NG_007095.2:g.12767T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000176643.11:c.623T>C MANE Select | ENSP00000176643.6:p.Leu208Pro | |
| ENST00000395575.7:c.471+3885T>C | ENSP00000378942.3:n.471+3885T>C | |
| ENST00000472059.6:c.*181T>C | ENSP00000458397.1:n.*181T>C | |
| ENST00000581518.6:c.623T>C | ENSP00000461916.2:p.Leu208Pro | |
| ENST00000582991.6:c.623T>C | ENSP00000464153.1:p.Leu208Pro | |
| ENST00000671841.1:n.1132T>C | ||
| ENST00000671878.1:c.623T>C | ENSP00000500516.1:p.Leu208Pro | |
| ENST00000672059.1:n.1074T>C | ||
| ENST00000672322.1:n.1694T>C | ||
| ENST00000672357.1:c.623T>C | ENSP00000500092.1:p.Leu208Pro | |
| ENST00000672465.1:c.623T>C | ENSP00000500517.1:p.Leu208Pro | |
| ENST00000672487.1:c.623T>C | ENSP00000500740.1:p.Leu208Pro | |
| ENST00000672564.1:n.844T>C | ||
| ENST00000672567.1:c.514T>C | ||
| ENST00000672608.1:n.1612T>C | ||
| ENST00000672709.1:c.477T>C | ||
| ENST00000673136.1:c.623T>C | ENSP00000500380.1:p.Leu208Pro | |
| ENST00000673472.1:n.959T>C | ||
| ENST00000176643.10:c.623T>C | ENSP00000176643.6:p.Leu208Pro | |
| ENST00000339618.8:c.623T>C | ENSP00000345774.4:p.Leu208Pro | |
| ENST00000395575.6:c.623T>C | ENSP00000378942.2:p.Leu208Pro | |
| ENST00000472059.5:c.*181T>C | ENSP00000458397.1:n.*181T>C | |
| ENST00000476965.5:n.373T>C | ||
| ENST00000571537.1:c.116T>C | ENSP00000458942.1:p.Leu39Pro | |
| ENST00000578696.1:c.30T>C | ||
| ENST00000579855.5:c.623T>C | ENSP00000463637.1:p.Leu208Pro | |
| ENST00000581518.5:c.623T>C | ENSP00000461916.1:p.Leu208Pro | |
| ENST00000582991.5:c.623T>C | ENSP00000464153.1:p.Leu208Pro | |
| ENST00000630662.2:c.-359T>C | ENSP00000487353.1:n.-359T>C | |
| ENST00000631291.2:c.623T>C | ENSP00000486085.1:p.Leu208Pro | |
| NM_000382.2:c.623T>C | NP_000373.1:p.Leu208Pro | |
| NM_001031806.1:c.623T>C | NP_001026976.1:p.Leu208Pro | |
| XM_011523732.1:c.623T>C | XP_011522034.1:p.Leu208Pro | |
| XM_011523733.1:c.623T>C | XP_011522035.1:p.Leu208Pro | |
| XM_011523733.2:c.623T>C | XP_011522035.1:p.Leu208Pro | |
| XM_017024355.1:c.623T>C | XP_016879844.1:p.Leu208Pro | |
| XM_017024356.2:c.623T>C | XP_016879845.1:p.Leu208Pro | |
| XM_017024357.1:c.623T>C | XP_016879846.1:p.Leu208Pro | |
| XM_017024358.2:c.623T>C | XP_016879847.1:p.Leu208Pro | |
| XM_024450651.1:c.44T>C | XP_024306419.1:p.Leu15Pro | |
| XM_024450652.1:c.44T>C | XP_024306420.1:p.Leu15Pro | |
| NM_000382.3:c.623T>C MANE Select | NP_000373.1:p.Leu208Pro | |
| NM_001031806.2:c.623T>C | NP_001026976.1:p.Leu208Pro | |
| NM_001369136.1:c.623T>C | NP_001356065.1:p.Leu208Pro | |
| NM_001369137.1:c.623T>C | NP_001356066.1:p.Leu208Pro | |
| NM_001369138.1:c.623T>C | NP_001356067.1:p.Leu208Pro | |
| NM_001369139.1:c.623T>C | NP_001356068.1:p.Leu208Pro | |
| NM_001369146.1:c.623T>C | NP_001356075.1:p.Leu208Pro | |
| NM_001369148.1:c.44T>C | NP_001356077.1:p.Leu15Pro | |
| NM_001369137.2:c.623T>C | NP_001356066.1:p.Leu208Pro | |
| NM_001369138.2:c.623T>C | NP_001356067.1:p.Leu208Pro | |
| NM_001369146.2:c.623T>C | NP_001356075.1:p.Leu208Pro | |
| NM_001369148.2:c.44T>C | NP_001356077.1:p.Leu15Pro |