Linked Data
ClinVar Variation Id:
317697
dbSNP Id:
rs748330320
ExAC:
16:11000984 C / G
gnomAD v2:
16-11000984-C-G
gnomAD v3:
16-10907127-C-G
gnomAD v4:
16-10907127-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10907127C>G , CM000678.2:g.10907127C>G | GRCh38 |
| NC_000016.9:g.11000984C>G , CM000678.1:g.11000984C>G | GRCh37 |
| NC_000016.8:g.10908485C>G | NCBI36 |
| NG_009628.1:g.34930C>G , LRG_49:g.34930C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695879.1:n.1529C>G | ||
| ENST00000324288.14:c.1635C>G MANE Select | ENSP00000316328.8:p.Leu545= | |
| ENST00000324288.12:c.1635C>G | ENSP00000316328.8:p.Leu545= | |
| ENST00000381835.9:c.860-1856C>G | ENSP00000371257.5:n.860-1856C>G | |
| ENST00000537380.1:n.1006+2315C>G | ||
| ENST00000570546.5:n.1756C>G | ||
| ENST00000573309.5:n.1606C>G | ||
| ENST00000611587.4:c.1491C>G | ENSP00000483487.1:p.Leu497= | |
| ENST00000618207.4:c.1006+2315C>G | ENSP00000484761.1:n.1006+2315C>G | |
| ENST00000618327.4:c.1638C>G | ENSP00000485010.1:p.Leu546= | |
| NM_000246.3:c.1635C>G , LRG_49t1:c.1635C>G | NP_000237.2:p.Leu545= | |
| NM_001286402.1:c.1638C>G | NP_001273331.1:p.Leu546= | |
| NM_001286403.1:c.860-1856C>G | NP_001273332.1:n.860-1856C>G | |
| NR_104444.1:n.1139+2315C>G | ||
| XM_006720880.2:c.1932C>G | XP_006720943.2:p.Leu644= | |
| XM_011522484.1:c.1932C>G | XP_011520786.1:p.Leu644= | |
| XM_011522485.1:c.1932C>G | XP_011520787.1:p.Leu644= | |
| XM_011522486.1:c.1932C>G | XP_011520788.1:p.Leu644= | |
| XM_011522487.1:c.1686C>G | XP_011520789.1:p.Leu562= | |
| XM_011522488.1:c.1683C>G | XP_011520790.1:p.Leu561= | |
| XM_011522489.1:c.1683C>G | XP_011520791.1:p.Leu561= | |
| XM_011522490.1:c.1680C>G | XP_011520792.1:p.Leu560= | |
| XM_011522491.1:c.1932C>G | XP_011520793.1:p.Leu644= | |
| XM_011522492.1:c.1638C>G | XP_011520794.1:p.Leu546= | |
| XM_011522493.1:c.1635C>G | XP_011520795.1:p.Leu545= | |
| XM_011522494.1:c.1566C>G | XP_011520796.1:p.Leu522= | |
| XM_011522495.1:c.1491C>G | XP_011520797.1:p.Leu497= | |
| XM_011522496.1:c.1488C>G | XP_011520798.1:p.Leu496= | |
| XR_932841.1:n.1947C>G | ||
| XR_932842.1:n.1947C>G | ||
| XR_932843.1:n.1947C>G | ||
| XR_932846.1:n.1947C>G | ||
| XR_932847.1:n.1947C>G | ||
| XR_932848.1:n.1010-1856C>G | ||
| XM_006720880.3:c.1932C>G | XP_006720943.2:p.Leu644= | |
| XM_011522484.3:c.1932C>G | XP_011520786.1:p.Leu644= | |
| XM_011522485.2:c.1932C>G | XP_011520787.1:p.Leu644= | |
| XM_011522486.2:c.1932C>G | XP_011520788.1:p.Leu644= | |
| XM_011522487.2:c.1686C>G | XP_011520789.1:p.Leu562= | |
| XM_011522488.2:c.1683C>G | XP_011520790.1:p.Leu561= | |
| XM_011522489.2:c.1683C>G | XP_011520791.1:p.Leu561= | |
| XM_011522490.2:c.1680C>G | XP_011520792.1:p.Leu560= | |
| XM_011522491.2:c.1932C>G | XP_011520793.1:p.Leu644= | |
| XM_011522492.2:c.1638C>G | XP_011520794.1:p.Leu546= | |
| XM_011522493.2:c.1635C>G | XP_011520795.1:p.Leu545= | |
| XM_011522494.2:c.1566C>G | XP_011520796.1:p.Leu522= | |
| XM_011522495.2:c.1491C>G | XP_011520797.1:p.Leu497= | |
| XM_011522496.2:c.1488C>G | XP_011520798.1:p.Leu496= | |
| XM_024450280.1:c.1878C>G | XP_024306048.1:p.Leu626= | |
| XM_024450281.1:c.1731C>G | XP_024306049.1:p.Leu577= | |
| XR_001751904.1:n.1951C>G | ||
| XR_932841.3:n.1949C>G | ||
| XR_932842.2:n.1949C>G | ||
| XR_932846.3:n.1951C>G | ||
| XR_932847.3:n.1951C>G | ||
| NM_001286403.2:c.860-1856C>G | NP_001273332.1:n.860-1856C>G | |
| NR_104444.2:n.1135+2315C>G | ||
| NM_000246.4:c.1635C>G MANE Select | NP_000237.2:p.Leu545= | |
| NM_001379330.1:c.1491C>G | NP_001366259.1:p.Leu497= | |
| NM_001379331.1:c.1488C>G | NP_001366260.1:p.Leu496= | |
| NM_001379332.1:c.1638C>G | NP_001366261.1:p.Leu546= | |
| NM_001379333.1:c.1635C>G | NP_001366262.1:p.Leu545= | |
| NM_001379334.1:c.1566C>G | NP_001366263.1:p.Leu522= |