Linked Data
ClinVar Variation Id:
2921831
ClinVar RCV Id:
RCV003782853
MyVariant Identifiers:
chr11:g.68682371C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914903C>G , CM000673.2:g.68914903C>G | GRCh38 |
| NC_000011.9:g.68682371C>G , CM000673.1:g.68682371C>G | GRCh37 |
| NC_000011.8:g.68438947C>G | NCBI36 |
| NG_007976.1:g.16053C>G , LRG_250:g.16053C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.792C>G MANE Select | ENSP00000255078.4:p.Arg264= | |
| ENST00000539224.2:c.921C>G | ||
| ENST00000674955.1:c.792C>G | ENSP00000502463.1:p.Arg264= | |
| ENST00000675118.1:c.139C>G | ||
| ENST00000675119.1:c.81C>G | ENSP00000501861.1:p.Arg27= | |
| ENST00000675305.1:c.81C>G | ENSP00000502365.1:p.Arg27= | |
| ENST00000675464.1:c.81C>G | ENSP00000502650.1:p.Arg27= | |
| ENST00000675615.1:c.792C>G | ENSP00000502413.1:p.Arg264= | |
| ENST00000675683.1:c.179C>G | ||
| ENST00000676173.1:n.836C>G | ||
| ENST00000676228.1:c.*115C>G | ENSP00000502375.1:n.*115C>G | |
| ENST00000676239.1:n.106C>G | ||
| ENST00000255078.7:c.792C>G | ENSP00000255078.3:p.Arg264= | |
| ENST00000539224.1:c.*115C>G | ENSP00000440465.1:n.*115C>G | |
| NM_002180.2:c.792C>G , LRG_250t1:c.792C>G | NP_002171.2:p.Arg264= | |
| XM_005273974.2:c.-220C>G | XP_005274031.1:n.-220C>G | |
| XM_005273976.1:c.792C>G | XP_005274033.1:p.Arg264= | |
| XR_247198.1:n.894C>G | ||
| XR_949903.1:n.894C>G | ||
| XM_005273976.2:c.792C>G | XP_005274033.1:p.Arg264= | |
| XM_017017669.2:c.-220C>G | XP_016873158.1:n.-220C>G | |
| XM_017017670.2:c.-220C>G | XP_016873159.1:n.-220C>G | |
| XM_017017671.2:c.792C>G | XP_016873160.1:p.Arg264= | |
| XR_949903.3:n.890C>G | ||
| NM_002180.3:c.792C>G MANE Select | NP_002171.2:p.Arg264= |