Linked Data
ClinVar Variation Id:
1609214
ClinVar RCV Id:
RCV002155191
dbSNP Id:
rs780440710
ExAC:
11:68703739 C / T
gnomAD v2:
11-68703739-C-T
gnomAD v3:
11-68936271-C-T
gnomAD v4:
11-68936271-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936271C>T , CM000673.2:g.68936271C>T | GRCh38 |
| NC_000011.9:g.68703739C>T , CM000673.1:g.68703739C>T | GRCh37 |
| NC_000011.8:g.68460315C>T | NCBI36 |
| NG_007976.1:g.37421C>T , LRG_250:g.37421C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1791C>T MANE Select | ENSP00000255078.4:p.Ile597= | |
| ENST00000674675.1:c.35C>T | ||
| ENST00000674878.1:c.35C>T | ||
| ENST00000674955.1:c.*508C>T | ENSP00000502463.1:n.*508C>T | |
| ENST00000675118.1:c.1279C>T | ||
| ENST00000675389.1:n.66C>T | ||
| ENST00000675615.1:c.1791C>T | ENSP00000502413.1:p.Ile597= | |
| ENST00000675648.1:n.1166C>T | ||
| ENST00000675916.1:c.35C>T | ||
| ENST00000676173.1:n.2536C>T | ||
| ENST00000676182.1:c.222C>T | ||
| ENST00000676228.1:c.*1114C>T | ENSP00000502375.1:n.*1114C>T | |
| ENST00000255078.7:c.1791C>T | ENSP00000255078.3:p.Ile597= | |
| ENST00000539064.5:n.1550C>T | ||
| ENST00000541229.5:n.486C>T | ||
| ENST00000543739.5:n.784C>T | ||
| ENST00000545475.1:n.387C>T | ||
| NM_002180.2:c.1791C>T , LRG_250t1:c.1791C>T | NP_002171.2:p.Ile597= | |
| XM_005273974.2:c.780C>T | XP_005274031.1:p.Ile260= | |
| XM_005273975.2:c.663C>T | XP_005274032.1:p.Ile221= | |
| XM_011544994.1:c.558C>T | XP_011543296.1:p.Ile186= | |
| XR_949903.1:n.1893C>T | ||
| XM_005273975.3:c.663C>T | XP_005274032.1:p.Ile221= | |
| XM_017017669.2:c.780C>T | XP_016873158.1:p.Ile260= | |
| XM_017017670.2:c.780C>T | XP_016873159.1:p.Ile260= | |
| XR_949903.3:n.1889C>T | ||
| NM_002180.3:c.1791C>T MANE Select | NP_002171.2:p.Ile597= |