Linked Data
ClinVar Variation Id:
2075141
ClinVar RCV Id:
RCV002982404
dbSNP Id:
rs778723699
ExAC:
11:68704188 C / G
gnomAD v2:
11-68704188-C-G
gnomAD v4:
11-68936720-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936720C>G , CM000673.2:g.68936720C>G | GRCh38 |
| NC_000011.9:g.68704188C>G , CM000673.1:g.68704188C>G | GRCh37 |
| NC_000011.8:g.68460764C>G | NCBI36 |
| NG_007976.1:g.37870C>G , LRG_250:g.37870C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2240C>G MANE Select | ENSP00000255078.4:p.Pro747Arg | |
| ENST00000674675.1:c.484C>G | ||
| ENST00000674878.1:c.484C>G | ||
| ENST00000674955.1:c.*957C>G | ENSP00000502463.1:n.*957C>G | |
| ENST00000675118.1:c.1728C>G | ||
| ENST00000675389.1:n.515C>G | ||
| ENST00000675615.1:c.2240C>G | ENSP00000502413.1:p.Pro747Arg | |
| ENST00000675648.1:n.1615C>G | ||
| ENST00000675916.1:c.484C>G | ||
| ENST00000676173.1:n.2985C>G | ||
| ENST00000676182.1:c.671C>G | ||
| ENST00000676228.1:c.*1563C>G | ENSP00000502375.1:n.*1563C>G | |
| ENST00000255078.7:c.2240C>G | ENSP00000255078.3:p.Pro747Arg | |
| ENST00000539064.5:n.1999C>G | ||
| ENST00000543739.5:n.1233C>G | ||
| NM_002180.2:c.2240C>G , LRG_250t1:c.2240C>G | NP_002171.2:p.Pro747Arg | |
| XM_005273974.2:c.1229C>G | XP_005274031.1:p.Pro410Arg | |
| XM_005273975.2:c.1112C>G | XP_005274032.1:p.Pro371Arg | |
| XM_011544994.1:c.1007C>G | XP_011543296.1:p.Pro336Arg | |
| XR_949903.1:n.2342C>G | ||
| XM_005273975.3:c.1112C>G | XP_005274032.1:p.Pro371Arg | |
| XM_017017669.2:c.1229C>G | XP_016873158.1:p.Pro410Arg | |
| XM_017017670.2:c.1229C>G | XP_016873159.1:p.Pro410Arg | |
| XR_949903.3:n.2338C>G | ||
| NM_002180.3:c.2240C>G MANE Select | NP_002171.2:p.Pro747Arg |