Linked Data
ClinVar Variation Id:
1934635
dbSNP Id:
rs144640313
ExAC:
10:13154573 C / T
gnomAD v2:
10-13154573-C-T
gnomAD v3:
10-13112573-C-T
gnomAD v4:
10-13112573-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13112573C>T , CM000672.2:g.13112573C>T | GRCh38 |
| NC_000010.10:g.13154573C>T , CM000672.1:g.13154573C>T | GRCh37 |
| NC_000010.9:g.13194579C>T | NCBI36 |
| NG_012876.1:g.17492C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.490C>T MANE Select | ENSP00000368021.3:p.Leu164= | |
| ENST00000263036.9:c.490C>T | ENSP00000263036.3:p.Leu164= | |
| ENST00000378747.7:c.490C>T | ENSP00000368021.3:p.Leu164= | |
| ENST00000378748.7:c.490C>T | ENSP00000368022.3:p.Leu164= | |
| ENST00000378752.7:c.490C>T | ENSP00000368027.3:p.Leu164= | |
| ENST00000378757.6:c.490C>T | ENSP00000368032.2:p.Leu164= | |
| ENST00000378764.6:c.490C>T | ENSP00000368040.1:p.Leu164= | |
| ENST00000430081.5:c.*395C>T | ENSP00000414747.2:n.*395C>T | |
| ENST00000482140.5:c.*110C>T | ENSP00000484961.1:n.*110C>T | |
| ENST00000486862.1:c.87C>T | ||
| NM_001008211.1:c.490C>T | NP_001008212.1:p.Leu164= | |
| NM_001008212.1:c.490C>T | NP_001008213.1:p.Leu164= | |
| NM_001008213.1:c.490C>T | NP_001008214.1:p.Leu164= | |
| NM_021980.4:c.490C>T | NP_068815.2:p.Leu164= | |
| XM_005252336.2:c.490C>T | XP_005252393.2:p.Leu164= | |
| XM_005252337.3:c.490C>T | XP_005252394.2:p.Leu164= | |
| XM_005252338.2:c.319C>T | XP_005252395.2:p.Leu107= | |
| NM_001008212.2:c.490C>T MANE Select | NP_001008213.1:p.Leu164= |