Linked Data
ClinVar Variation Id:
649410
ClinVar RCV Id:
RCV000804339
dbSNP Id:
rs372382180
ExAC:
11:68704045 G / T
gnomAD v2:
11-68704045-G-T
gnomAD v3:
11-68936577-G-T
gnomAD v4:
11-68936577-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936577G>T , CM000673.2:g.68936577G>T | GRCh38 |
| NC_000011.9:g.68704045G>T , CM000673.1:g.68704045G>T | GRCh37 |
| NC_000011.8:g.68460621G>T | NCBI36 |
| NG_007976.1:g.37727G>T , LRG_250:g.37727G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.2097G>T MANE Select | ENSP00000255078.4:p.Gly699= | |
| ENST00000674675.1:c.341G>T | ||
| ENST00000674878.1:c.341G>T | ||
| ENST00000674955.1:c.*814G>T | ENSP00000502463.1:n.*814G>T | |
| ENST00000675118.1:c.1585G>T | ||
| ENST00000675389.1:n.372G>T | ||
| ENST00000675615.1:c.2097G>T | ENSP00000502413.1:p.Gly699= | |
| ENST00000675648.1:n.1472G>T | ||
| ENST00000675916.1:c.341G>T | ||
| ENST00000676173.1:n.2842G>T | ||
| ENST00000676182.1:c.528G>T | ||
| ENST00000676228.1:c.*1420G>T | ENSP00000502375.1:n.*1420G>T | |
| ENST00000255078.7:c.2097G>T | ENSP00000255078.3:p.Gly699= | |
| ENST00000539064.5:n.1856G>T | ||
| ENST00000543739.5:n.1090G>T | ||
| NM_002180.2:c.2097G>T , LRG_250t1:c.2097G>T | NP_002171.2:p.Gly699= | |
| XM_005273974.2:c.1086G>T | XP_005274031.1:p.Gly362= | |
| XM_005273975.2:c.969G>T | XP_005274032.1:p.Gly323= | |
| XM_011544994.1:c.864G>T | XP_011543296.1:p.Gly288= | |
| XR_949903.1:n.2199G>T | ||
| XM_005273975.3:c.969G>T | XP_005274032.1:p.Gly323= | |
| XM_017017669.2:c.1086G>T | XP_016873158.1:p.Gly362= | |
| XM_017017670.2:c.1086G>T | XP_016873159.1:p.Gly362= | |
| XR_949903.3:n.2195G>T | ||
| NM_002180.3:c.2097G>T MANE Select | NP_002171.2:p.Gly699= |