Linked Data
gnomAD v3:
11-68936812-A-C
gnomAD v4:
11-68936812-A-C
MyVariant Identifiers:
chr11:g.68704280A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936812A>C , CM000673.2:g.68936812A>C | GRCh38 |
| NC_000011.9:g.68704280A>C , CM000673.1:g.68704280A>C | GRCh37 |
| NC_000011.8:g.68460856A>C | NCBI36 |
| NG_007976.1:g.37962A>C , LRG_250:g.37962A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2332A>C MANE Select | ENSP00000255078.4:p.Arg778= | |
| ENST00000674675.1:c.576A>C | ||
| ENST00000674878.1:c.547+29A>C | ||
| ENST00000674955.1:c.*1049A>C | ENSP00000502463.1:n.*1049A>C | |
| ENST00000675118.1:c.1820A>C | ||
| ENST00000675389.1:n.607A>C | ||
| ENST00000675615.1:c.2332A>C | ENSP00000502413.1:p.Arg778= | |
| ENST00000675648.1:n.1707A>C | ||
| ENST00000675916.1:c.576A>C | ||
| ENST00000676173.1:n.3077A>C | ||
| ENST00000676182.1:c.763A>C | ||
| ENST00000676228.1:c.*1655A>C | ENSP00000502375.1:n.*1655A>C | |
| ENST00000255078.7:c.2332A>C | ENSP00000255078.3:p.Arg778= | |
| ENST00000539064.5:n.2091A>C | ||
| ENST00000543739.5:n.1325A>C | ||
| NM_002180.2:c.2332A>C , LRG_250t1:c.2332A>C | NP_002171.2:p.Arg778= | |
| XM_005273974.2:c.1321A>C | XP_005274031.1:p.Arg441= | |
| XM_005273975.2:c.1204A>C | XP_005274032.1:p.Arg402= | |
| XM_011544994.1:c.1099A>C | XP_011543296.1:p.Arg367= | |
| XR_949903.1:n.2434A>C | ||
| XM_005273975.3:c.1204A>C | XP_005274032.1:p.Arg402= | |
| XM_017017669.2:c.1321A>C | XP_016873158.1:p.Arg441= | |
| XM_017017670.2:c.1321A>C | XP_016873159.1:p.Arg441= | |
| XR_949903.3:n.2430A>C | ||
| NM_002180.3:c.2332A>C MANE Select | NP_002171.2:p.Arg778= |