Linked Data
ClinVar Variation Id:
2183567
ClinVar RCV Id:
RCV002627788
dbSNP Id:
rs1323413182
gnomAD v4:
2-11787133-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.11787133G>C , CM000664.2:g.11787133G>C | GRCh38 |
| NC_000002.11:g.11927259G>C , CM000664.1:g.11927259G>C | GRCh37 |
| NC_000002.10:g.11844710G>C | NCBI36 |
| NG_012843.2:g.114555G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674199.1:c.1609G>C MANE Select | ENSP00000501331.1:p.Asp537His | |
| ENST00000256720.6:c.1501G>C | ENSP00000256720.2:p.Asp501His | |
| ENST00000396097.5:c.1627G>C | ENSP00000379404.2:p.Asp543His | |
| ENST00000396099.5:c.1627G>C | ENSP00000379406.2:p.Asp543His | |
| ENST00000404113.6:n.1094G>C | ||
| ENST00000425416.6:c.1519G>C | ENSP00000401522.2:p.Asp507His | |
| ENST00000449576.6:c.1756G>C | ENSP00000397908.2:p.Asp586His | |
| ENST00000454151.2:c.4G>C | ENSP00000413714.1:p.Asp2His | |
| ENST00000464953.2:n.87G>C | ||
| NM_001261427.1:c.1519G>C | NP_001248356.1:p.Asp507His | |
| NM_001261428.1:c.1756G>C | NP_001248357.1:p.Asp586His | |
| NM_145693.2:c.1501G>C | NP_663731.1:p.Asp501His | |
| XM_006711869.1:c.1648G>C | XP_006711932.1:p.Asp550His | |
| XM_006711870.2:c.1627G>C | XP_006711933.1:p.Asp543His | |
| XM_006711871.1:c.1609G>C | XP_006711934.1:p.Asp537His | |
| XM_006711872.1:c.1609G>C | XP_006711935.1:p.Asp537His | |
| XM_006711874.1:c.1609G>C | XP_006711937.1:p.Asp537His | |
| XM_011510333.1:c.1753G>C | XP_011508635.1:p.Asp585His | |
| XM_011510334.1:c.1627G>C | XP_011508636.1:p.Asp543His | |
| XM_011510335.1:c.1609G>C | XP_011508637.1:p.Asp537His | |
| XM_011510336.1:c.1609G>C | XP_011508638.1:p.Asp537His | |
| XM_011510337.1:c.1756G>C | XP_011508639.1:p.Asp586His | |
| NM_001261427.2:c.1519G>C | NP_001248356.1:p.Asp507His | |
| NM_001261428.2:c.1756G>C | NP_001248357.1:p.Asp586His | |
| NM_001349199.1:c.1501G>C | NP_001336128.1:p.Asp501His | |
| NM_001349200.1:c.1501G>C | NP_001336129.1:p.Asp501His | |
| NM_001349201.1:c.1501G>C | NP_001336130.1:p.Asp501His | |
| NM_001349202.1:c.1606G>C | NP_001336131.1:p.Asp536His | |
| NM_001349203.1:c.1606G>C | NP_001336132.1:p.Asp536His | |
| NM_001349204.1:c.1609G>C | NP_001336133.1:p.Asp537His | |
| NM_001349205.1:c.1609G>C | NP_001336134.1:p.Asp537His | |
| NM_001349206.1:c.1609G>C | NP_001336135.1:p.Asp537His | |
| NM_001349207.1:c.1699G>C | NP_001336136.1:p.Asp567His | |
| NM_001349208.1:c.1648G>C | NP_001336137.1:p.Asp550His | |
| NM_145693.3:c.1501G>C | NP_663731.1:p.Asp501His | |
| NR_146080.1:n.1597G>C | ||
| XM_006711870.4:c.1627G>C | XP_006711933.1:p.Asp543His | |
| XM_006711872.3:c.1609G>C | XP_006711935.1:p.Asp537His | |
| XM_011510333.2:c.1753G>C | XP_011508635.1:p.Asp585His | |
| XM_011510334.3:c.1627G>C | XP_011508636.1:p.Asp543His | |
| XM_011510335.3:c.1609G>C | XP_011508637.1:p.Asp537His | |
| XM_011510336.3:c.1609G>C | XP_011508638.1:p.Asp537His | |
| XM_017003623.2:c.1678G>C | XP_016859112.1:p.Asp560His | |
| XM_017003624.2:c.1609G>C | XP_016859113.1:p.Asp537His | |
| XM_017003625.2:c.1609G>C | XP_016859114.1:p.Asp537His | |
| XM_017003627.2:c.1606G>C | XP_016859116.1:p.Asp536His | |
| XM_017003628.2:c.1501G>C | XP_016859117.1:p.Asp501His | |
| XM_017003629.1:c.1501G>C | XP_016859118.1:p.Asp501His | |
| XM_017003630.2:c.1501G>C | XP_016859119.1:p.Asp501His | |
| XM_024452762.1:c.1609G>C | XP_024308530.1:p.Asp537His | |
| XM_024452763.1:c.1519G>C | XP_024308531.1:p.Asp507His | |
| NM_001261428.3:c.1756G>C | NP_001248357.1:p.Asp586His | |
| NM_001349199.2:c.1501G>C | NP_001336128.1:p.Asp501His | |
| NM_001349200.2:c.1501G>C | NP_001336129.1:p.Asp501His | |
| NM_001349201.2:c.1501G>C | NP_001336130.1:p.Asp501His | |
| NM_001349202.2:c.1606G>C | NP_001336131.1:p.Asp536His | |
| NM_001349203.2:c.1606G>C | NP_001336132.1:p.Asp536His | |
| NM_001349204.2:c.1609G>C | NP_001336133.1:p.Asp537His | |
| NM_001349206.2:c.1609G>C MANE Select | NP_001336135.1:p.Asp537His | |
| NM_001349207.2:c.1699G>C | NP_001336136.1:p.Asp567His | |
| NM_001349208.2:c.1648G>C | NP_001336137.1:p.Asp550His | |
| NM_145693.4:c.1501G>C | NP_663731.1:p.Asp501His | |
| NR_146080.2:n.1550G>C | ||
| NM_001261427.3:c.1519G>C | NP_001248356.1:p.Asp507His | |
| NM_001349205.2:c.1609G>C | NP_001336134.1:p.Asp537His |