Linked Data
ClinVar Variation Id:
208164
ClinVar RCV Id:
RCV000205274
dbSNP Id:
rs864621969
PubMed:
PMID:26380986
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126615549C>G , CM000671.2:g.126615549C>G | GRCh38 |
| NC_000009.11:g.129377828C>G , CM000671.1:g.129377828C>G | GRCh37 |
| NC_000009.10:g.128417649C>G | NCBI36 |
| NG_017039.1:g.6107C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355497.10:c.306C>G | ENSP00000347684.5:p.Tyr102Ter | |
| ENST00000373474.9:c.306C>G MANE Select | ENSP00000362573.3:p.Tyr102Ter | |
| ENST00000526117.6:c.306C>G | ENSP00000436930.1:p.Tyr102Ter | |
| ENST00000355497.9:c.306C>G | ENSP00000347684.5:p.Tyr102Ter | |
| ENST00000373474.8:c.306C>G | ENSP00000362573.3:p.Tyr102Ter | |
| ENST00000526117.5:c.306C>G | ENSP00000436930.1:p.Tyr102Ter | |
| ENST00000561065.1:c.237C>G | ENSP00000453580.1:p.Tyr79Ter | |
| NM_001174146.1:c.306C>G | NP_001167617.1:p.Tyr102Ter | |
| NM_001174147.1:c.306C>G | NP_001167618.1:p.Tyr102Ter | |
| NM_002316.3:c.306C>G | NP_002307.2:p.Tyr102Ter | |
| NM_001174146.2:c.306C>G | NP_001167617.1:p.Tyr102Ter | |
| NM_001174147.2:c.306C>G MANE Select | NP_001167618.1:p.Tyr102Ter | |
| NM_002316.4:c.306C>G | NP_002307.2:p.Tyr102Ter |