Linked Data
ClinVar Variation Id:
736998
ClinVar RCV Id:
RCV002065835
dbSNP Id:
rs1567425926
gnomAD v4:
16-10909038-G-A
MyVariant Identifiers:
chr16:g.11002895G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10909038G>A , CM000678.2:g.10909038G>A | GRCh38 |
| NC_000016.9:g.11002895G>A , CM000678.1:g.11002895G>A | GRCh37 |
| NC_000016.8:g.10910396G>A | NCBI36 |
| NG_009628.1:g.36841G>A , LRG_49:g.36841G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324288.14:c.2667G>A MANE Select | ENSP00000316328.8:p.Leu889= | |
| ENST00000324288.12:c.2667G>A | ENSP00000316328.8:p.Leu889= | |
| ENST00000381835.9:c.915G>A | ENSP00000371257.5:p.Leu305= | |
| ENST00000537380.1:n.1007-1150G>A | ||
| ENST00000570546.5:n.3667G>A | ||
| ENST00000618207.4:c.1007-1150G>A | ENSP00000484761.1:n.1007-1150G>A | |
| ENST00000618327.4:c.2670G>A | ENSP00000485010.1:p.Leu890= | |
| NM_000246.3:c.2667G>A , LRG_49t1:c.2667G>A | NP_000237.2:p.Leu889= | |
| NM_001286402.1:c.2670G>A | NP_001273331.1:p.Leu890= | |
| NM_001286403.1:c.915G>A | NP_001273332.1:p.Leu305= | |
| NR_104444.1:n.1140-1150G>A | ||
| XM_006720880.2:c.2964G>A | XP_006720943.2:p.Leu988= | |
| XM_011522484.1:c.2964G>A | XP_011520786.1:p.Leu988= | |
| XM_011522485.1:c.2964G>A | XP_011520787.1:p.Leu988= | |
| XM_011522486.1:c.2964G>A | XP_011520788.1:p.Leu988= | |
| XM_011522487.1:c.2718G>A | XP_011520789.1:p.Leu906= | |
| XM_011522488.1:c.2715G>A | XP_011520790.1:p.Leu905= | |
| XM_011522489.1:c.2715G>A | XP_011520791.1:p.Leu905= | |
| XM_011522490.1:c.2712G>A | XP_011520792.1:p.Leu904= | |
| XM_011522491.1:c.2964G>A | XP_011520793.1:p.Leu988= | |
| XM_011522492.1:c.2670G>A | XP_011520794.1:p.Leu890= | |
| XM_011522493.1:c.2667G>A | XP_011520795.1:p.Leu889= | |
| XM_011522494.1:c.2598G>A | XP_011520796.1:p.Leu866= | |
| XM_011522495.1:c.2523G>A | XP_011520797.1:p.Leu841= | |
| XM_011522496.1:c.2520G>A | XP_011520798.1:p.Leu840= | |
| XR_932841.1:n.2979G>A | ||
| XR_932842.1:n.2979G>A | ||
| XR_932843.1:n.2979G>A | ||
| XR_932846.1:n.3025G>A | ||
| XR_932847.1:n.3025G>A | ||
| XR_932848.1:n.1065G>A | ||
| XM_006720880.3:c.2964G>A | XP_006720943.2:p.Leu988= | |
| XM_011522484.3:c.2964G>A | XP_011520786.1:p.Leu988= | |
| XM_011522485.2:c.2964G>A | XP_011520787.1:p.Leu988= | |
| XM_011522486.2:c.2964G>A | XP_011520788.1:p.Leu988= | |
| XM_011522487.2:c.2718G>A | XP_011520789.1:p.Leu906= | |
| XM_011522488.2:c.2715G>A | XP_011520790.1:p.Leu905= | |
| XM_011522489.2:c.2715G>A | XP_011520791.1:p.Leu905= | |
| XM_011522490.2:c.2712G>A | XP_011520792.1:p.Leu904= | |
| XM_011522491.2:c.2964G>A | XP_011520793.1:p.Leu988= | |
| XM_011522492.2:c.2670G>A | XP_011520794.1:p.Leu890= | |
| XM_011522493.2:c.2667G>A | XP_011520795.1:p.Leu889= | |
| XM_011522494.2:c.2598G>A | XP_011520796.1:p.Leu866= | |
| XM_011522495.2:c.2523G>A | XP_011520797.1:p.Leu841= | |
| XM_011522496.2:c.2520G>A | XP_011520798.1:p.Leu840= | |
| XM_024450280.1:c.2910G>A | XP_024306048.1:p.Leu970= | |
| XM_024450281.1:c.2763G>A | XP_024306049.1:p.Leu921= | |
| XR_001751904.1:n.3029G>A | ||
| XR_932841.3:n.2981G>A | ||
| XR_932842.2:n.2981G>A | ||
| XR_932846.3:n.3029G>A | ||
| XR_932847.3:n.3029G>A | ||
| NM_001286403.2:c.915G>A | NP_001273332.1:p.Leu305= | |
| NR_104444.2:n.1136-1150G>A | ||
| NM_000246.4:c.2667G>A MANE Select | NP_000237.2:p.Leu889= | |
| NM_001379330.1:c.2523G>A | NP_001366259.1:p.Leu841= | |
| NM_001379331.1:c.2520G>A | NP_001366260.1:p.Leu840= | |
| NM_001379332.1:c.2670G>A | NP_001366261.1:p.Leu890= | |
| NM_001379333.1:c.2667G>A | NP_001366262.1:p.Leu889= | |
| NM_001379334.1:c.2598G>A | NP_001366263.1:p.Leu866= |