Linked Data
ClinVar Variation Id:
954878
ClinVar RCV Id:
RCV001227412
dbSNP Id:
rs1317637789
gnomAD v3:
11-68936792-G-T
gnomAD v4:
11-68936792-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936792G>T , CM000673.2:g.68936792G>T | GRCh38 |
| NC_000011.9:g.68704260G>T , CM000673.1:g.68704260G>T | GRCh37 |
| NC_000011.8:g.68460836G>T | NCBI36 |
| NG_007976.1:g.37942G>T , LRG_250:g.37942G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.2312G>T MANE Select | ENSP00000255078.4:p.Ser771Ile | |
| ENST00000674675.1:c.556G>T | ||
| ENST00000674878.1:c.547+9G>T | ||
| ENST00000674955.1:c.*1029G>T | ENSP00000502463.1:n.*1029G>T | |
| ENST00000675118.1:c.1800G>T | ||
| ENST00000675389.1:n.587G>T | ||
| ENST00000675615.1:c.2312G>T | ENSP00000502413.1:p.Ser771Ile | |
| ENST00000675648.1:n.1687G>T | ||
| ENST00000675916.1:c.556G>T | ||
| ENST00000676173.1:n.3057G>T | ||
| ENST00000676182.1:c.743G>T | ||
| ENST00000676228.1:c.*1635G>T | ENSP00000502375.1:n.*1635G>T | |
| ENST00000255078.7:c.2312G>T | ENSP00000255078.3:p.Ser771Ile | |
| ENST00000539064.5:n.2071G>T | ||
| ENST00000543739.5:n.1305G>T | ||
| NM_002180.2:c.2312G>T , LRG_250t1:c.2312G>T | NP_002171.2:p.Ser771Ile | |
| XM_005273974.2:c.1301G>T | XP_005274031.1:p.Ser434Ile | |
| XM_005273975.2:c.1184G>T | XP_005274032.1:p.Ser395Ile | |
| XM_011544994.1:c.1079G>T | XP_011543296.1:p.Ser360Ile | |
| XR_949903.1:n.2414G>T | ||
| XM_005273975.3:c.1184G>T | XP_005274032.1:p.Ser395Ile | |
| XM_017017669.2:c.1301G>T | XP_016873158.1:p.Ser434Ile | |
| XM_017017670.2:c.1301G>T | XP_016873159.1:p.Ser434Ile | |
| XR_949903.3:n.2410G>T | ||
| NM_002180.3:c.2312G>T MANE Select | NP_002171.2:p.Ser771Ile |