Linked Data
ClinVar Variation Id:
1123759
ClinVar RCV Id:
RCV001454902
dbSNP Id:
rs779427031
ExAC:
9:6556261 T / G
gnomAD v2:
9-6556261-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556261T>G , CM000671.2:g.6556261T>G | GRCh38 |
| NC_000009.11:g.6556261T>G , CM000671.1:g.6556261T>G | GRCh37 |
| NC_000009.10:g.6546261T>G | NCBI36 |
| NG_016397.1:g.94432A>C , LRG_643:g.94432A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2094A>C MANE Select | ENSP00000370737.4:p.Thr698= | |
| ENST00000638233.1:n.529A>C | ||
| ENST00000638661.1:c.294A>C | ENSP00000491369.1:p.Thr98= | |
| ENST00000638694.1:n.281A>C | ||
| ENST00000639318.1:c.294A>C | ENSP00000491932.1:p.Thr98= | |
| ENST00000639364.1:n.1794A>C | ||
| ENST00000639443.1:n.1662A>C | ||
| ENST00000639954.1:n.1802A>C | ||
| ENST00000640505.1:n.333A>C | ||
| ENST00000321612.6:c.2094A>C | ENSP00000370737.3:p.Thr698= | |
| NM_000170.2:c.2094A>C , LRG_643t1:c.2094A>C | NP_000161.2:p.Thr698= | |
| NM_000170.3:c.2094A>C MANE Select | NP_000161.2:p.Thr698= |