Linked Data
dbSNP Id:
rs776053148
ExAC:
11:68703863 G / A
MyVariant Identifiers:
chr11:g.68703863G>A (hg19)
chr11:g.68703863_68703864delinsAC (hg19)
chr11:g.68936395G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936395G>A , CM000673.2:g.68936395G>A | GRCh38 |
| NC_000011.9:g.68703863G>A , CM000673.1:g.68703863G>A | GRCh37 |
| NC_000011.8:g.68460439G>A | NCBI36 |
| NG_007976.1:g.37545G>A , LRG_250:g.37545G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1915G>A MANE Select | ENSP00000255078.4:p.Ala639Thr | |
| ENST00000674675.1:c.159G>A | ||
| ENST00000674878.1:c.159G>A | ||
| ENST00000674955.1:c.*632G>A | ENSP00000502463.1:n.*632G>A | |
| ENST00000675118.1:c.1403G>A | ||
| ENST00000675389.1:n.190G>A | ||
| ENST00000675615.1:c.1915G>A | ENSP00000502413.1:p.Ala639Thr | |
| ENST00000675648.1:n.1290G>A | ||
| ENST00000675916.1:c.159G>A | ||
| ENST00000676173.1:n.2660G>A | ||
| ENST00000676182.1:c.346G>A | ||
| ENST00000676228.1:c.*1238G>A | ENSP00000502375.1:n.*1238G>A | |
| ENST00000255078.7:c.1915G>A | ENSP00000255078.3:p.Ala639Thr | |
| ENST00000539064.5:n.1674G>A | ||
| ENST00000543739.5:n.908G>A | ||
| ENST00000545475.1:n.511G>A | ||
| NM_002180.2:c.1915G>A , LRG_250t1:c.1915G>A | NP_002171.2:p.Ala639Thr | |
| XM_005273974.2:c.904G>A | XP_005274031.1:p.Ala302Thr | |
| XM_005273975.2:c.787G>A | XP_005274032.1:p.Ala263Thr | |
| XM_011544994.1:c.682G>A | XP_011543296.1:p.Ala228Thr | |
| XR_949903.1:n.2017G>A | ||
| XM_005273975.3:c.787G>A | XP_005274032.1:p.Ala263Thr | |
| XM_017017669.2:c.904G>A | XP_016873158.1:p.Ala302Thr | |
| XM_017017670.2:c.904G>A | XP_016873159.1:p.Ala302Thr | |
| XR_949903.3:n.2013G>A | ||
| NM_002180.3:c.1915G>A MANE Select | NP_002171.2:p.Ala639Thr |