Linked Data
ClinVar Variation Id:
327584
ClinVar RCV Id:
RCV000404513
dbSNP Id:
rs374031151
gnomAD v2:
18-57098200-T-A
gnomAD v3:
18-59430968-T-A
gnomAD v4:
18-59430968-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59430968T>A , CM000680.2:g.59430968T>A | GRCh38 |
| NC_000018.9:g.57098200T>A , CM000680.1:g.57098200T>A | GRCh37 |
| NC_000018.8:g.55249180T>A | NCBI36 |
| NG_016990.1:g.271445A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650467.2:c.*4940A>T | ENSP00000496897.2:n.*4940A>T | |
| ENST00000439986.9:c.*4940A>T MANE Select | ENSP00000404464.2:n.*4940A>T | |
| ENST00000649564.1:c.*4940A>T | ENSP00000497183.1:n.*4940A>T | |
| ENST00000398179.3:c.5951A>T | ENSP00000381241.3:n.5951A>T | |
| ENST00000439986.8:c.*4940A>T | ENSP00000404464.2:n.*4940A>T | |
| NM_133459.3:c.*4940A>T | NP_597716.1:n.*4940A>T | |
| XM_005266648.2:c.*4940A>T | XP_005266705.1:n.*4940A>T | |
| NM_133459.4:c.*4940A>T MANE Select | NP_597716.1:n.*4940A>T | |
| XM_024451091.1:c.*4940A>T | XP_024306859.1:n.*4940A>T |