Linked Data
ClinVar Variation Id:
2742325
ClinVar RCV Id:
RCV003497599
MyVariant Identifiers:
chr12:g.116429423G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115991618G>A , CM000674.2:g.115991618G>A | GRCh38 |
| NC_000012.11:g.116429423G>A , CM000674.1:g.116429423G>A | GRCh37 |
| NC_000012.10:g.114913806G>A | NCBI36 |
| NG_023366.1:g.290569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.3336C>T MANE Select | ENSP00000281928.3:p.Thr1112= | |
| ENST00000549786.2:c.2764C>T | ||
| ENST00000648379.1:n.1704C>T | ||
| ENST00000648737.1:n.3100C>T | ||
| ENST00000648825.1:n.76C>T | ||
| ENST00000648916.1:n.1347C>T | ||
| ENST00000649607.1:c.1520C>T | ||
| ENST00000650226.1:c.3336C>T | ENSP00000496981.1:p.Thr1112= | |
| ENST00000281928.7:c.3336C>T | ENSP00000281928.3:p.Thr1112= | |
| NM_015335.4:c.3336C>T | NP_056150.1:p.Thr1112= | |
| XM_011538080.1:c.3336C>T | XP_011536382.1:p.Thr1112= | |
| XM_011538081.1:c.3333C>T | XP_011536383.1:p.Thr1111= | |
| XM_011538082.1:c.3306C>T | XP_011536384.1:p.Thr1102= | |
| XM_011538080.2:c.3336C>T | XP_011536382.1:p.Thr1112= | |
| XM_011538081.2:c.3333C>T | XP_011536383.1:p.Thr1111= | |
| XM_011538082.2:c.3306C>T | XP_011536384.1:p.Thr1102= | |
| XM_017019090.1:c.3333C>T | XP_016874579.1:p.Thr1111= | |
| NM_015335.5:c.3336C>T MANE Select | NP_056150.1:p.Thr1112= |