Linked Data
ClinVar Variation Id:
327709
dbSNP Id:
rs2288598
ExAC:
18:57363917 G / A
gnomAD v2:
18-57363917-G-A
gnomAD v3:
18-59696685-G-A
gnomAD v4:
18-59696685-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59696685G>A , CM000680.2:g.59696685G>A | GRCh38 |
| NC_000018.9:g.57363917G>A , CM000680.1:g.57363917G>A | GRCh37 |
| NC_000018.8:g.55514897G>A | NCBI36 |
| NG_016990.1:g.5728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650467.2:c.156C>T | ENSP00000496897.2:p.Ile52= | |
| ENST00000695903.1:c.156C>T | ENSP00000512255.1:p.Ile52= | |
| ENST00000695904.1:c.156C>T | ENSP00000512259.1:p.Ile52= | |
| ENST00000439986.9:c.156C>T MANE Select | ENSP00000404464.2:p.Ile52= | |
| ENST00000649564.1:c.156C>T | ENSP00000497183.1:p.Ile52= | |
| ENST00000650467.1:c.34C>T | ||
| ENST00000439986.8:c.156C>T | ENSP00000404464.2:p.Ile52= | |
| NM_133459.3:c.156C>T | NP_597716.1:p.Ile52= | |
| XM_005266648.2:c.156C>T | XP_005266705.1:p.Ile52= | |
| NM_133459.4:c.156C>T MANE Select | NP_597716.1:p.Ile52= | |
| XM_017025556.1:c.156C>T | XP_016881045.1:p.Ile52= | |
| XM_017025557.1:c.156C>T | XP_016881046.1:p.Ile52= | |
| XM_017025558.1:c.156C>T | XP_016881047.1:p.Ile52= | |
| XM_024451091.1:c.156C>T | XP_024306859.1:p.Ile52= | |
| XR_001753142.1:n.995C>T |