Linked Data
dbSNP Id:
rs1469790465
gnomAD v3:
18-33739240-C-A
gnomAD v4:
18-33739240-C-A
MyVariant Identifiers:
chr18:g.31319204C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.33739240C>A , CM000680.2:g.33739240C>A | GRCh38 |
| NC_000018.9:g.31319204C>A , CM000680.1:g.31319204C>A | GRCh37 |
| NC_000018.8:g.29573202C>A | NCBI36 |
| NG_055244.1:g.165664C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696964.1:c.1839C>A | ENSP00000513003.1:p.Ser613= | |
| ENST00000269197.12:c.1836C>A MANE Select | ENSP00000269197.4:p.Ser612= | |
| ENST00000592288.6:c.*960C>A | ENSP00000465053.1:n.*960C>A | |
| ENST00000592541.6:c.*1495C>A | ENSP00000466655.2:n.*1495C>A | |
| ENST00000593195.6:c.2048C>A | ENSP00000466073.1:n.2048C>A | |
| ENST00000642541.1:c.1668C>A | ENSP00000493665.1:p.Ser556= | |
| ENST00000681521.1:c.1716C>A | ENSP00000506037.1:p.Ser572= | |
| ENST00000269197.9:c.1836C>A | ENSP00000269197.4:p.Ser612= | |
| ENST00000592288.5:c.*960C>A | ENSP00000465053.1:n.*960C>A | |
| NM_030632.1:c.1836C>A | NP_085135.1:p.Ser612= | |
| XM_005258356.1:c.1839C>A | XP_005258413.1:p.Ser613= | |
| XM_011526205.1:c.1812C>A | XP_011524507.1:p.Ser604= | |
| XM_011526206.1:c.1758C>A | XP_011524508.1:p.Ser586= | |
| XM_011526207.1:c.1758C>A | XP_011524509.1:p.Ser586= | |
| XM_011526208.1:c.1719C>A | XP_011524510.1:p.Ser573= | |
| XM_011526209.1:c.1668C>A | XP_011524511.1:p.Ser556= | |
| XM_011526210.1:c.1668C>A | XP_011524512.1:p.Ser556= | |
| XM_011526211.1:c.1668C>A | XP_011524513.1:p.Ser556= | |
| XM_011526212.1:c.1668C>A | XP_011524514.1:p.Ser556= | |
| XM_011526213.1:c.1668C>A | XP_011524515.1:p.Ser556= | |
| XM_011526214.1:c.1668C>A | XP_011524516.1:p.Ser556= | |
| NM_030632.2:c.1836C>A | NP_085135.1:p.Ser612= | |
| XM_011526205.2:c.1812C>A | XP_011524507.1:p.Ser604= | |
| XM_011526206.2:c.1758C>A | XP_011524508.1:p.Ser586= | |
| XM_011526213.2:c.1668C>A | XP_011524515.1:p.Ser556= | |
| XM_017026012.1:c.1758C>A | XP_016881501.1:p.Ser586= | |
| XM_017026013.1:c.1668C>A | XP_016881502.1:p.Ser556= | |
| XM_017026014.2:c.1668C>A | XP_016881503.1:p.Ser556= | |
| XM_024451269.1:c.1668C>A | XP_024307037.1:p.Ser556= | |
| NM_030632.3:c.1836C>A MANE Select | NP_085135.1:p.Ser612= |