Linked Data
ClinVar Variation Id:
1119223
ClinVar RCV Id:
RCV001448600
dbSNP Id:
rs2133692970
MyVariant Identifiers:
chr11:g.2187976C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166746C>G , CM000673.2:g.2166746C>G | GRCh38 |
| NC_000011.9:g.2187976C>G , CM000673.1:g.2187976C>G | GRCh37 |
| NC_000011.8:g.2144552C>G | NCBI36 |
| NG_008128.1:g.10060G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.864G>C MANE Select | ENSP00000325951.4:p.Arg288= | |
| ENST00000324155.8:c.*553G>C | ENSP00000325831.3:n.*553G>C | |
| ENST00000333684.9:c.696-197G>C | ENSP00000328814.6:n.696-197G>C | |
| ENST00000352909.7:c.864G>C | ENSP00000325951.3:p.Arg288= | |
| ENST00000381168.7:c.*584G>C | ENSP00000370560.3:n.*584G>C | |
| ENST00000381175.5:c.945G>C | ENSP00000370567.1:p.Arg315= | |
| ENST00000381178.5:c.957G>C | ENSP00000370571.1:p.Arg319= | |
| ENST00000412076.1:c.136-197G>C | ||
| ENST00000416223.5:c.158G>C | ||
| ENST00000461172.1:n.29G>C | ||
| ENST00000479437.5:n.413G>C | ||
| NM_000360.3:c.864G>C | NP_000351.2:p.Arg288= | |
| NM_199292.2:c.957G>C | NP_954986.2:p.Arg319= | |
| NM_199293.2:c.945G>C | NP_954987.2:p.Arg315= | |
| XM_011520335.1:c.876G>C | XP_011518637.1:p.Arg292= | |
| XM_011520335.2:c.876G>C | XP_011518637.1:p.Arg292= | |
| NM_000360.4:c.864G>C MANE Select | NP_000351.2:p.Arg288= | |
| NM_199292.3:c.957G>C | NP_954986.2:p.Arg319= | |
| NM_199293.3:c.945G>C | NP_954987.2:p.Arg315= |