Linked Data
ClinVar Variation Id:
327603
ClinVar RCV Id:
RCV000339027
dbSNP Id:
rs4940462
gnomAD v2:
18-57099335-A-G
gnomAD v3:
18-59432103-A-G
gnomAD v4:
18-59432103-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59432103A>G , CM000680.2:g.59432103A>G | GRCh38 |
| NC_000018.9:g.57099335A>G , CM000680.1:g.57099335A>G | GRCh37 |
| NC_000018.8:g.55250315A>G | NCBI36 |
| NG_016990.1:g.270310T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650467.2:c.*3805T>C | ENSP00000496897.2:n.*3805T>C | |
| ENST00000439986.9:c.*3805T>C MANE Select | ENSP00000404464.2:n.*3805T>C | |
| ENST00000649564.1:c.*3805T>C | ENSP00000497183.1:n.*3805T>C | |
| ENST00000398179.3:c.4816T>C | ENSP00000381241.3:n.4816T>C | |
| ENST00000439986.8:c.*3805T>C | ENSP00000404464.2:n.*3805T>C | |
| NM_133459.3:c.*3805T>C | NP_597716.1:n.*3805T>C | |
| XM_005266648.2:c.*3805T>C | XP_005266705.1:n.*3805T>C | |
| NM_133459.4:c.*3805T>C MANE Select | NP_597716.1:n.*3805T>C | |
| XM_024451091.1:c.*3805T>C | XP_024306859.1:n.*3805T>C |