Linked Data
ClinVar Variation Id:
2943679
ClinVar RCV Id:
RCV003803237
MyVariant Identifiers:
chr11:g.68704150G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936682G>C , CM000673.2:g.68936682G>C | GRCh38 |
| NC_000011.9:g.68704150G>C , CM000673.1:g.68704150G>C | GRCh37 |
| NC_000011.8:g.68460726G>C | NCBI36 |
| NG_007976.1:g.37832G>C , LRG_250:g.37832G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.2202G>C MANE Select | ENSP00000255078.4:p.Val734= | |
| ENST00000674675.1:c.446G>C | ||
| ENST00000674878.1:c.446G>C | ||
| ENST00000674955.1:c.*919G>C | ENSP00000502463.1:n.*919G>C | |
| ENST00000675118.1:c.1690G>C | ||
| ENST00000675389.1:n.477G>C | ||
| ENST00000675615.1:c.2202G>C | ENSP00000502413.1:p.Val734= | |
| ENST00000675648.1:n.1577G>C | ||
| ENST00000675916.1:c.446G>C | ||
| ENST00000676173.1:n.2947G>C | ||
| ENST00000676182.1:c.633G>C | ||
| ENST00000676228.1:c.*1525G>C | ENSP00000502375.1:n.*1525G>C | |
| ENST00000255078.7:c.2202G>C | ENSP00000255078.3:p.Val734= | |
| ENST00000539064.5:n.1961G>C | ||
| ENST00000543739.5:n.1195G>C | ||
| NM_002180.2:c.2202G>C , LRG_250t1:c.2202G>C | NP_002171.2:p.Val734= | |
| XM_005273974.2:c.1191G>C | XP_005274031.1:p.Val397= | |
| XM_005273975.2:c.1074G>C | XP_005274032.1:p.Val358= | |
| XM_011544994.1:c.969G>C | XP_011543296.1:p.Val323= | |
| XR_949903.1:n.2304G>C | ||
| XM_005273975.3:c.1074G>C | XP_005274032.1:p.Val358= | |
| XM_017017669.2:c.1191G>C | XP_016873158.1:p.Val397= | |
| XM_017017670.2:c.1191G>C | XP_016873159.1:p.Val397= | |
| XR_949903.3:n.2300G>C | ||
| NM_002180.3:c.2202G>C MANE Select | NP_002171.2:p.Val734= |