Linked Data
ClinVar Variation Id:
2091742
ClinVar RCV Id:
RCV002991688
dbSNP Id:
rs1168562800
gnomAD v3:
X-37686165-C-T
gnomAD v4:
X-37686165-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37686165C>T , CM000685.2:g.37686165C>T | GRCh38 |
| NC_000023.10:g.37545418C>T , CM000685.1:g.37545418C>T | GRCh37 |
| NC_000023.9:g.37430337C>T | NCBI36 |
| NG_007473.1:g.5286C>T | |
| NG_007473.3:g.5286C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378616.5:c.204C>T MANE Select | ENSP00000367879.3:p.Leu68= | |
| ENST00000378616.3:c.204C>T | ENSP00000367879.3:p.Leu68= | |
| ENST00000465127.1:c.171+260165C>T | ENSP00000417050.1:n.171+260165C>T | |
| NM_021083.2:c.204C>T | NP_066569.1:p.Leu68= | |
| XM_011543978.1:c.204C>T | XP_011542280.1:p.Leu68= | |
| NM_021083.4:c.204C>T MANE Select | NP_066569.1:p.Leu68= | |
| XM_011543978.3:c.204C>T | XP_011542280.1:p.Leu68= |