ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.112411890G>C , CM000666.2:g.112411890G>C | GRCh38 |
| NC_000004.11:g.113333046G>C , CM000666.1:g.113333046G>C | GRCh37 |
| NC_000004.10:g.113552495G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458497.6:c.340G>C | ENSP00000398048.1:p.Val114Leu | |
| ENST00000650871.1:c.340G>C MANE Select | ENSP00000498374.1:p.Val114Leu | |
| ENST00000177648.13:c.340G>C | ENSP00000177648.9:p.Val114Leu | |
| ENST00000458497.5:c.340G>C | ENSP00000398048.1:p.Val114Leu | |
| ENST00000504176.6:c.106G>C | ENSP00000426044.2:p.Val36Leu | |
| ENST00000504745.1:n.113G>C | ||
| ENST00000505127.5:c.340G>C | ENSP00000425559.1:p.Val114Leu | |
| ENST00000505912.1:n.299G>C | ||
| ENST00000509722.5:c.185G>C | ENSP00000424492.1:p.Gly62Ala | |
| ENST00000515106.1:c.185G>C | ENSP00000425273.1:p.Gly62Ala | |
| ENST00000515330.5:c.340G>C | ENSP00000423978.1:p.Val114Leu | |
| NM_001102406.1:c.340G>C | NP_001095876.1:p.Val114Leu | |
| NM_001253884.1:c.106G>C | NP_001240813.1:p.Val36Leu | |
| NM_025144.3:c.340G>C | NP_079420.3:p.Val114Leu | |
| XM_005263245.3:c.340G>C | XP_005263302.1:p.Val114Leu | |
| XM_005263246.3:c.340G>C | XP_005263303.1:p.Val114Leu | |
| XM_005263247.3:c.106G>C | XP_005263304.1:p.Val36Leu | |
| XM_005263248.3:c.106G>C | XP_005263305.1:p.Val36Leu | |
| XM_006714326.2:c.340G>C | XP_006714389.1:p.Val114Leu | |
| XM_011532280.1:c.340G>C | XP_011530582.1:p.Val114Leu | |
| XM_011532281.1:c.340G>C | XP_011530583.1:p.Val114Leu | |
| XM_011532282.1:c.340G>C | XP_011530584.1:p.Val114Leu | |
| XM_011532283.1:c.340G>C | XP_011530585.1:p.Val114Leu | |
| XM_005263245.4:c.340G>C | XP_005263302.1:p.Val114Leu | |
| XM_005263246.4:c.340G>C | XP_005263303.1:p.Val114Leu | |
| XM_006714326.3:c.340G>C | XP_006714389.1:p.Val114Leu | |
| XM_017008633.1:c.340G>C | XP_016864122.1:p.Val114Leu | |
| XM_017008634.1:c.340G>C | XP_016864123.1:p.Val114Leu | |
| XM_017008635.1:c.340G>C | XP_016864124.1:p.Val114Leu | |
| XM_017008636.1:c.340G>C | XP_016864125.1:p.Val114Leu | |
| XM_017008637.1:c.340G>C | XP_016864126.1:p.Val114Leu | |
| XM_017008638.2:c.340G>C | XP_016864127.1:p.Val114Leu | |
| XM_017008639.1:c.340G>C | XP_016864128.1:p.Val114Leu | |
| XM_017008640.1:c.340G>C | XP_016864129.1:p.Val114Leu | |
| XM_017008641.2:c.340G>C | XP_016864130.1:p.Val114Leu | |
| XM_017008642.1:c.340G>C | XP_016864131.1:p.Val114Leu | |
| XM_017008643.1:c.340G>C | XP_016864132.1:p.Val114Leu | |
| XM_017008644.1:c.271G>C | XP_016864133.1:p.Val91Leu | |
| XM_017008645.1:c.340G>C | XP_016864134.1:p.Val114Leu | |
| XM_017008646.1:c.340G>C | XP_016864135.1:p.Val114Leu | |
| XM_017008647.1:c.106G>C | XP_016864136.1:p.Val36Leu | |
| XM_017008648.1:c.106G>C | XP_016864137.1:p.Val36Leu | |
| XM_017008651.1:c.-245G>C | XP_016864140.1:n.-245G>C | |
| NM_025144.4:c.340G>C MANE Select | NP_079420.3:p.Val114Leu | |
| NM_001102406.2:c.340G>C | NP_001095876.1:p.Val114Leu | |
| NM_001253884.2:c.106G>C | NP_001240813.1:p.Val36Leu |