Linked Data
ClinVar Variation Id:
3027183
dbSNP Id:
rs758432138
ExAC:
11:44297178 A / G
gnomAD v2:
11-44297178-A-G
gnomAD v4:
11-44275628-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44275628A>G , CM000673.2:g.44275628A>G | GRCh38 |
| NC_000011.9:g.44297178A>G , CM000673.1:g.44297178A>G | GRCh37 |
| NC_000011.8:g.44253754A>G | NCBI36 |
| NG_015809.1:g.39539T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652299.1:c.497T>C MANE Select | ENSP00000498217.1:p.Leu166Ser | |
| ENST00000329255.3:c.497T>C | ENSP00000332744.3:p.Leu166Ser | |
| NM_021926.3:c.497T>C | NP_068745.2:p.Leu166Ser | |
| XM_011520264.1:c.497T>C | XP_011518566.1:p.Leu166Ser | |
| XM_011520265.1:c.-26T>C | XP_011518567.1:n.-26T>C | |
| XM_011520266.1:c.-26T>C | XP_011518568.1:n.-26T>C | |
| NM_021926.4:c.497T>C MANE Select | NP_068745.2:p.Leu166Ser |