Linked Data
ClinVar Variation Id:
1104674
ClinVar RCV Id:
RCV001428813
dbSNP Id:
rs2134456155
MyVariant Identifiers:
chr11:g.67815397C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047930C>T , CM000673.2:g.68047930C>T | GRCh38 |
| NC_000011.9:g.67815397C>T , CM000673.1:g.67815397C>T | GRCh37 |
| NC_000011.8:g.67571973C>T | NCBI36 |
| NG_007878.1:g.13915C>T , LRG_115:g.13915C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.137C>T | ||
| ENST00000698254.1:c.1041C>T | ENSP00000513629.1:p.Val347= | |
| ENST00000698255.1:c.1461C>T | ENSP00000513630.1:p.Val487= | |
| ENST00000698256.1:c.978C>T | ||
| ENST00000698257.1:n.930C>T | ||
| ENST00000698258.1:n.647C>T | ||
| ENST00000698259.1:n.413C>T | ||
| ENST00000265686.8:c.1512C>T MANE Select | ENSP00000265686.3:p.Val504= | |
| ENST00000265686.7:c.1512C>T | ENSP00000265686.3:p.Val504= | |
| ENST00000525516.1:n.306C>T | ||
| ENST00000525724.5:n.824C>T | ||
| ENST00000528981.5:c.664C>T | ||
| ENST00000532635.5:c.864C>T | ENSP00000434407.1:p.Val288= | |
| ENST00000533005.5:n.625C>T | ||
| NM_006019.3:c.1512C>T | NP_006010.2:p.Val504= | |
| NM_006053.3:c.864C>T | NP_006044.1:p.Val288= | |
| XM_005273709.2:c.1512C>T | XP_005273766.1:p.Val504= | |
| XM_011544726.1:c.1512C>T | XP_011543028.1:p.Val504= | |
| XM_011544727.1:c.1512C>T | XP_011543029.1:p.Val504= | |
| XM_011544728.1:c.1512C>T | XP_011543030.1:p.Val504= | |
| XR_949754.1:n.1516C>T | ||
| NM_001351059.1:c.618C>T | NP_001337988.1:p.Val206= | |
| XM_024448320.1:c.1605C>T | XP_024304088.1:p.Val535= | |
| XM_024448321.1:c.1605C>T | XP_024304089.1:p.Val535= | |
| XM_024448322.1:c.1605C>T | XP_024304090.1:p.Val535= | |
| XM_024448323.1:c.1605C>T | XP_024304091.1:p.Val535= | |
| XM_024448324.1:c.1605C>T | XP_024304092.1:p.Val535= | |
| XR_001747721.2:n.1636C>T | ||
| XR_001747722.1:n.1649C>T | ||
| XR_001747723.2:n.1649C>T | ||
| XR_002957115.1:n.1727C>T | ||
| NM_006019.4:c.1512C>T MANE Select | NP_006010.2:p.Val504= | |
| NM_001351059.2:c.618C>T | NP_001337988.1:p.Val206= | |
| NM_006053.4:c.864C>T | NP_006044.1:p.Val288= |