Linked Data
ClinVar Variation Id:
1070313
ClinVar RCV Id:
RCV001382416
dbSNP Id:
rs773361937
ExAC:
11:64527146 G / T
gnomAD v2:
11-64527146-G-T
gnomAD v4:
11-64759674-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759674G>T , CM000673.2:g.64759674G>T | GRCh38 |
| NC_000011.9:g.64527146G>T , CM000673.1:g.64527146G>T | GRCh37 |
| NC_000011.8:g.64283722G>T | NCBI36 |
| NG_013018.1:g.6042C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.225C>A MANE Select | ENSP00000164139.3:p.Tyr75Ter | |
| ENST00000164139.3:c.225C>A | ENSP00000164139.3:p.Tyr75Ter | |
| ENST00000377432.7:c.225C>A | ENSP00000366650.3:p.Tyr75Ter | |
| NM_001164716.1:c.225C>A | NP_001158188.1:p.Tyr75Ter | |
| NM_005609.2:c.225C>A | NP_005600.1:p.Tyr75Ter | |
| NM_005609.3:c.225C>A | NP_005600.1:p.Tyr75Ter | |
| NM_005609.4:c.225C>A MANE Select | NP_005600.1:p.Tyr75Ter |