Linked Data
ClinVar Variation Id:
377213
ClinVar RCV Id:
RCV000438084
dbSNP Id:
rs1057520166
gnomAD v4:
20-48995830-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.48995830C>T , CM000682.2:g.48995830C>T | GRCh38 |
| NC_000020.10:g.47612367C>T , CM000682.1:g.47612367C>T | GRCh37 |
| NC_000020.9:g.47045774C>T | NCBI36 |
| NG_011490.1:g.79093C>T | |
| NG_011490.2:g.79093C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371917.5:c.3169C>T MANE Select | ENSP00000360985.4:p.Gln1057Ter | |
| ENST00000679436.1:c.3166C>T | ENSP00000504888.1:p.Gln1056Ter | |
| ENST00000679542.1:n.2726C>T | ||
| ENST00000680635.1:n.2726C>T | ||
| ENST00000680871.1:c.3017C>T | ENSP00000505042.1:n.3017C>T | |
| ENST00000681021.1:c.3169C>T | ENSP00000505972.1:p.Gln1057Ter | |
| ENST00000681399.1:c.*2846C>T | ENSP00000506363.1:n.*2846C>T | |
| ENST00000681656.1:c.3060C>T | ENSP00000505638.1:n.3060C>T | |
| ENST00000681885.1:c.3169C>T | ENSP00000505737.1:p.Gln1057Ter | |
| ENST00000371917.4:c.3169C>T | ENSP00000360985.4:p.Gln1057Ter | |
| NM_006420.2:c.3169C>T | NP_006411.2:p.Gln1057Ter | |
| XM_005260252.2:c.3166C>T | XP_005260309.1:p.Gln1056Ter | |
| XM_005260252.3:c.3166C>T | XP_005260309.1:p.Gln1056Ter | |
| NM_006420.3:c.3169C>T MANE Select | NP_006411.2:p.Gln1057Ter |