Linked Data
ClinVar Variation Id:
43
ClinVar RCV Id:
RCV000000060
dbSNP Id:
rs267607177
ExAC:
19:36574001 C / T
gnomAD v4:
19-36083099-C-T
PubMed:
PMID:20729831
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36083099C>T , CM000681.2:g.36083099C>T | GRCh38 |
| NC_000019.9:g.36574001C>T , CM000681.1:g.36574001C>T | GRCh37 |
| NC_000019.8:g.41265841C>T | NCBI36 |
| NG_028101.1:g.33219C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270301.12:c.1408C>T | ENSP00000270301.6:p.Gln470Ter | |
| ENST00000401500.7:c.1408C>T MANE Select | ENSP00000384792.1:p.Gln470Ter | |
| ENST00000587391.6:c.*98C>T | ENSP00000465525.1:n.*98C>T | |
| ENST00000644764.2:c.*200C>T | ENSP00000494253.2:n.*200C>T | |
| ENST00000679682.1:c.1393C>T | ENSP00000506226.1:p.Gln465Ter | |
| ENST00000679714.1:c.1402C>T | ENSP00000506627.1:p.Gln468Ter | |
| ENST00000679757.1:c.1057C>T | ENSP00000505158.1:p.Gln353Ter | |
| ENST00000679858.1:c.*205C>T | ENSP00000505655.1:n.*205C>T | |
| ENST00000680359.1:c.1408C>T | ENSP00000506079.1:p.Gln470Ter | |
| ENST00000680403.1:c.1408C>T | ENSP00000505677.1:p.Gln470Ter | |
| ENST00000680489.1:n.1731C>T | ||
| ENST00000680564.1:c.1408C>T | ENSP00000505582.1:p.Gln470Ter | |
| ENST00000680590.1:c.1408C>T | ENSP00000505350.1:p.Gln470Ter | |
| ENST00000680806.1:c.*237C>T | ENSP00000506418.1:n.*237C>T | |
| ENST00000681625.1:c.1393C>T | ENSP00000505555.1:p.Gln465Ter | |
| ENST00000270301.11:c.1408C>T | ENSP00000270301.6:p.Gln470Ter | |
| ENST00000401500.6:c.1408C>T | ENSP00000384792.1:p.Gln470Ter | |
| ENST00000587391.5:c.*98C>T | ENSP00000465525.1:n.*98C>T | |
| NM_001083961.1:c.1408C>T | NP_001077430.1:p.Gln470Ter | |
| NM_173636.4:c.1408C>T | NP_775907.4:p.Gln470Ter | |
| XM_005258809.2:c.1408C>T | XP_005258866.1:p.Gln470Ter | |
| XM_011526837.1:c.1393C>T | XP_011525139.1:p.Gln465Ter | |
| XM_011526838.1:c.1408C>T | XP_011525140.1:p.Gln470Ter | |
| XM_011526839.1:c.1057C>T | XP_011525141.1:p.Gln353Ter | |
| XM_011526840.1:c.400C>T | XP_011525142.1:p.Gln134Ter | |
| XM_011526841.1:c.-15C>T | XP_011525143.1:n.-15C>T | |
| XM_011526840.2:c.400C>T | XP_011525142.1:p.Gln134Ter | |
| XM_011526841.2:c.-15C>T | XP_011525143.1:n.-15C>T | |
| XM_017026665.1:c.1408C>T | XP_016882154.1:p.Gln470Ter | |
| XR_001753671.1:n.1499C>T | ||
| XR_001753672.1:n.1499C>T | ||
| NM_001083961.2:c.1408C>T MANE Select | NP_001077430.1:p.Gln470Ter | |
| NM_173636.5:c.1408C>T | NP_775907.4:p.Gln470Ter |