Linked Data
ClinVar Variation Id:
5761
ClinVar RCV Id:
RCV000006117
dbSNP Id:
rs121908493
ExAC:
11:20639301 C / A
gnomAD v2:
11-20639301-C-A
gnomAD v3:
11-20617755-C-A
gnomAD v4:
11-20617755-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20617755C>A , CM000673.2:g.20617755C>A | GRCh38 |
| NC_000011.9:g.20639301C>A , CM000673.1:g.20639301C>A | GRCh37 |
| NC_000011.8:g.20595877C>A | NCBI36 |
| NG_013086.1:g.23356C>A | |
| NG_013086.2:g.23356C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525748.6:c.1131C>A MANE Select | ENSP00000434364.2:p.Tyr377Ter | |
| ENST00000298923.11:c.*428C>A | ENSP00000298923.7:n.*428C>A | |
| ENST00000525748.5:c.1131C>A | ENSP00000434364.1:p.Tyr377Ter | |
| NM_004211.3:c.1131C>A | NP_004202.2:p.Tyr377Ter | |
| XM_005253225.1:c.429C>A | XP_005253282.1:p.Tyr143Ter | |
| XM_011520473.1:c.1131C>A | XP_011518775.1:p.Tyr377Ter | |
| NM_001318369.1:c.429C>A | NP_001305298.1:p.Tyr143Ter | |
| NM_004211.4:c.1131C>A | NP_004202.3:p.Tyr377Ter | |
| XM_017018544.2:c.255C>A | XP_016874033.1:p.Tyr85Ter | |
| XM_017018545.2:c.90C>A | XP_016874034.1:p.Tyr30Ter | |
| NM_001318369.2:c.429C>A | NP_001305298.1:p.Tyr143Ter | |
| NM_004211.5:c.1131C>A MANE Select | NP_004202.4:p.Tyr377Ter |