Linked Data
ClinVar Variation Id:
374169
dbSNP Id:
rs773690764
ExAC:
11:68685249 C / T
gnomAD v2:
11-68685249-C-T
gnomAD v3:
11-68917781-C-T
gnomAD v4:
11-68917781-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68917781C>T , CM000673.2:g.68917781C>T | GRCh38 |
| NC_000011.9:g.68685249C>T , CM000673.1:g.68685249C>T | GRCh37 |
| NC_000011.8:g.68441825C>T | NCBI36 |
| NG_007976.1:g.18931C>T , LRG_250:g.18931C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.958C>T MANE Select | ENSP00000255078.4:p.Arg320Ter | |
| ENST00000674745.1:c.46C>T | ENSP00000502738.1:p.Arg16Ter | |
| ENST00000674775.1:n.46C>T | ||
| ENST00000674955.1:c.958C>T | ENSP00000502463.1:p.Arg320Ter | |
| ENST00000675118.1:c.446C>T | ||
| ENST00000675119.1:c.385C>T | ENSP00000501861.1:n.385C>T | |
| ENST00000675305.1:c.278C>T | ENSP00000502365.1:n.278C>T | |
| ENST00000675464.1:c.241C>T | ENSP00000502650.1:p.Arg81Ter | |
| ENST00000675493.1:n.46C>T | ||
| ENST00000675615.1:c.958C>T | ENSP00000502413.1:p.Arg320Ter | |
| ENST00000675648.1:n.333C>T | ||
| ENST00000675683.1:c.345C>T | ||
| ENST00000675684.1:c.46C>T | ENSP00000502192.1:p.Arg16Ter | |
| ENST00000676173.1:n.1002C>T | ||
| ENST00000676228.1:c.*281C>T | ENSP00000502375.1:n.*281C>T | |
| ENST00000255078.7:c.958C>T | ENSP00000255078.3:p.Arg320Ter | |
| NM_002180.2:c.958C>T , LRG_250t1:c.958C>T | NP_002171.2:p.Arg320Ter | |
| XM_005273974.2:c.-54C>T | XP_005274031.1:n.-54C>T | |
| XM_005273976.1:c.958C>T | XP_005274033.1:p.Arg320Ter | |
| XR_247198.1:n.1060C>T | ||
| XR_949903.1:n.1060C>T | ||
| XM_005273976.2:c.958C>T | XP_005274033.1:p.Arg320Ter | |
| XM_017017669.2:c.-54C>T | XP_016873158.1:n.-54C>T | |
| XM_017017670.2:c.-54C>T | XP_016873159.1:n.-54C>T | |
| XM_017017671.2:c.958C>T | XP_016873160.1:p.Arg320Ter | |
| XR_949903.3:n.1056C>T | ||
| NM_002180.3:c.958C>T MANE Select | NP_002171.2:p.Arg320Ter |