Linked Data
ClinVar Variation Id:
45102
dbSNP Id:
rs55925184
ExAC:
1:41300682 C / T
gnomAD v2:
1-41300682-C-T
gnomAD v3:
1-40835010-C-T
gnomAD v4:
1-40835010-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40835010C>T , CM000663.2:g.40835010C>T | GRCh38 |
| NC_000001.10:g.41300682C>T , CM000663.1:g.41300682C>T | GRCh37 |
| NC_000001.9:g.41073269C>T | NCBI36 |
| NG_008139.1:g.55999C>T | |
| NG_008139.2:g.55999C>T | |
| NG_008139.3:g.56224C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347132.10:c.1657C>T MANE Select | ENSP00000262916.6:p.Leu553= | |
| ENST00000347132.9:c.1657C>T | ENSP00000262916.6:p.Leu553= | |
| ENST00000443478.3:c.1238C>T | ||
| ENST00000506017.1:n.976C>T | ||
| ENST00000509682.6:c.1495C>T | ENSP00000423756.2:p.Leu499= | |
| NM_004700.3:c.1657C>T | NP_004691.2:p.Leu553= | |
| NM_172163.2:c.1495C>T | NP_751895.1:p.Leu499= | |
| XR_946798.1:n.1679C>T | ||
| XR_946799.1:n.1679C>T | ||
| XR_946800.1:n.1412C>T | ||
| XM_017002792.1:c.640C>T | XP_016858281.1:p.Leu214= | |
| NM_004700.4:c.1657C>T MANE Select | NP_004691.2:p.Leu553= | |
| NM_172163.3:c.1495C>T | NP_751895.1:p.Leu499= |