Linked Data
ClinVar Variation Id:
262583
dbSNP Id:
rs33997857
ExAC:
2:11927238 G / A
gnomAD v2:
2-11927238-G-A
gnomAD v3:
2-11787112-G-A
gnomAD v4:
2-11787112-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.11787112G>A , CM000664.2:g.11787112G>A | GRCh38 |
| NC_000002.11:g.11927238G>A , CM000664.1:g.11927238G>A | GRCh37 |
| NC_000002.10:g.11844689G>A | NCBI36 |
| NG_012843.2:g.114534G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674199.1:c.1588G>A MANE Select | ENSP00000501331.1:p.Val530Met | |
| ENST00000256720.6:c.1480G>A | ENSP00000256720.2:p.Val494Met | |
| ENST00000396097.5:c.1606G>A | ENSP00000379404.2:p.Val536Met | |
| ENST00000396099.5:c.1606G>A | ENSP00000379406.2:p.Val536Met | |
| ENST00000404113.6:n.1073G>A | ||
| ENST00000425416.6:c.1498G>A | ENSP00000401522.2:p.Val500Met | |
| ENST00000449576.6:c.1735G>A | ENSP00000397908.2:p.Val579Met | |
| ENST00000464953.2:n.66G>A | ||
| NM_001261427.1:c.1498G>A | NP_001248356.1:p.Val500Met | |
| NM_001261428.1:c.1735G>A | NP_001248357.1:p.Val579Met | |
| NM_145693.2:c.1480G>A | NP_663731.1:p.Val494Met | |
| XM_006711869.1:c.1627G>A | XP_006711932.1:p.Val543Met | |
| XM_006711870.2:c.1606G>A | XP_006711933.1:p.Val536Met | |
| XM_006711871.1:c.1588G>A | XP_006711934.1:p.Val530Met | |
| XM_006711872.1:c.1588G>A | XP_006711935.1:p.Val530Met | |
| XM_006711874.1:c.1588G>A | XP_006711937.1:p.Val530Met | |
| XM_011510333.1:c.1732G>A | XP_011508635.1:p.Val578Met | |
| XM_011510334.1:c.1606G>A | XP_011508636.1:p.Val536Met | |
| XM_011510335.1:c.1588G>A | XP_011508637.1:p.Val530Met | |
| XM_011510336.1:c.1588G>A | XP_011508638.1:p.Val530Met | |
| XM_011510337.1:c.1735G>A | XP_011508639.1:p.Val579Met | |
| NM_001261427.2:c.1498G>A | NP_001248356.1:p.Val500Met | |
| NM_001261428.2:c.1735G>A | NP_001248357.1:p.Val579Met | |
| NM_001349199.1:c.1480G>A | NP_001336128.1:p.Val494Met | |
| NM_001349200.1:c.1480G>A | NP_001336129.1:p.Val494Met | |
| NM_001349201.1:c.1480G>A | NP_001336130.1:p.Val494Met | |
| NM_001349202.1:c.1585G>A | NP_001336131.1:p.Val529Met | |
| NM_001349203.1:c.1585G>A | NP_001336132.1:p.Val529Met | |
| NM_001349204.1:c.1588G>A | NP_001336133.1:p.Val530Met | |
| NM_001349205.1:c.1588G>A | NP_001336134.1:p.Val530Met | |
| NM_001349206.1:c.1588G>A | NP_001336135.1:p.Val530Met | |
| NM_001349207.1:c.1678G>A | NP_001336136.1:p.Val560Met | |
| NM_001349208.1:c.1627G>A | NP_001336137.1:p.Val543Met | |
| NM_145693.3:c.1480G>A | NP_663731.1:p.Val494Met | |
| NR_146080.1:n.1576G>A | ||
| XM_006711870.4:c.1606G>A | XP_006711933.1:p.Val536Met | |
| XM_006711872.3:c.1588G>A | XP_006711935.1:p.Val530Met | |
| XM_011510333.2:c.1732G>A | XP_011508635.1:p.Val578Met | |
| XM_011510334.3:c.1606G>A | XP_011508636.1:p.Val536Met | |
| XM_011510335.3:c.1588G>A | XP_011508637.1:p.Val530Met | |
| XM_011510336.3:c.1588G>A | XP_011508638.1:p.Val530Met | |
| XM_017003623.2:c.1657G>A | XP_016859112.1:p.Val553Met | |
| XM_017003624.2:c.1588G>A | XP_016859113.1:p.Val530Met | |
| XM_017003625.2:c.1588G>A | XP_016859114.1:p.Val530Met | |
| XM_017003627.2:c.1585G>A | XP_016859116.1:p.Val529Met | |
| XM_017003628.2:c.1480G>A | XP_016859117.1:p.Val494Met | |
| XM_017003629.1:c.1480G>A | XP_016859118.1:p.Val494Met | |
| XM_017003630.2:c.1480G>A | XP_016859119.1:p.Val494Met | |
| XM_024452762.1:c.1588G>A | XP_024308530.1:p.Val530Met | |
| XM_024452763.1:c.1498G>A | XP_024308531.1:p.Val500Met | |
| NM_001261428.3:c.1735G>A | NP_001248357.1:p.Val579Met | |
| NM_001349199.2:c.1480G>A | NP_001336128.1:p.Val494Met | |
| NM_001349200.2:c.1480G>A | NP_001336129.1:p.Val494Met | |
| NM_001349201.2:c.1480G>A | NP_001336130.1:p.Val494Met | |
| NM_001349202.2:c.1585G>A | NP_001336131.1:p.Val529Met | |
| NM_001349203.2:c.1585G>A | NP_001336132.1:p.Val529Met | |
| NM_001349204.2:c.1588G>A | NP_001336133.1:p.Val530Met | |
| NM_001349206.2:c.1588G>A MANE Select | NP_001336135.1:p.Val530Met | |
| NM_001349207.2:c.1678G>A | NP_001336136.1:p.Val560Met | |
| NM_001349208.2:c.1627G>A | NP_001336137.1:p.Val543Met | |
| NM_145693.4:c.1480G>A | NP_663731.1:p.Val494Met | |
| NR_146080.2:n.1529G>A | ||
| NM_001261427.3:c.1498G>A | NP_001248356.1:p.Val500Met | |
| NM_001349205.2:c.1588G>A | NP_001336134.1:p.Val530Met |