Linked Data
ClinVar Variation Id:
371276
ClinVar RCV Id:
RCV000412392
dbSNP Id:
rs1057517145
gnomAD v2:
11-64526168-G-C
gnomAD v3:
11-64758696-G-C
gnomAD v4:
11-64758696-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758696G>C , CM000673.2:g.64758696G>C | GRCh38 |
| NC_000011.9:g.64526168G>C , CM000673.1:g.64526168G>C | GRCh37 |
| NC_000011.8:g.64282744G>C | NCBI36 |
| NG_013018.1:g.7020C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.252C>G MANE Select | ENSP00000164139.3:p.Tyr84Ter | |
| ENST00000164139.3:c.252C>G | ENSP00000164139.3:p.Tyr84Ter | |
| ENST00000377432.7:c.244-430C>G | ENSP00000366650.3:n.244-430C>G | |
| NM_001164716.1:c.244-430C>G | NP_001158188.1:n.244-430C>G | |
| NM_005609.2:c.252C>G | NP_005600.1:p.Tyr84Ter | |
| NM_005609.3:c.252C>G | NP_005600.1:p.Tyr84Ter | |
| NM_005609.4:c.252C>G MANE Select | NP_005600.1:p.Tyr84Ter |