Linked Data
ClinVar Variation Id:
139608
ClinVar RCV Id:
RCV000128551
dbSNP Id:
rs527236146
gnomAD v4:
11-64758693-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758693G>T , CM000673.2:g.64758693G>T | GRCh38 |
| NC_000011.9:g.64526165G>T , CM000673.1:g.64526165G>T | GRCh37 |
| NC_000011.8:g.64282741G>T | NCBI36 |
| NG_013018.1:g.7023C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.255C>A MANE Select | ENSP00000164139.3:p.Tyr85Ter | |
| ENST00000164139.3:c.255C>A | ENSP00000164139.3:p.Tyr85Ter | |
| ENST00000377432.7:c.244-427C>A | ENSP00000366650.3:n.244-427C>A | |
| NM_001164716.1:c.244-427C>A | NP_001158188.1:n.244-427C>A | |
| NM_005609.2:c.255C>A | NP_005600.1:p.Tyr85Ter | |
| NM_005609.3:c.255C>A | NP_005600.1:p.Tyr85Ter | |
| NM_005609.4:c.255C>A MANE Select | NP_005600.1:p.Tyr85Ter |