Linked Data
ClinVar Variation Id:
2567127
ClinVar RCV Id:
RCV003311088
dbSNP Id:
rs1287130448
gnomAD v2:
16-67974212-A-G
gnomAD v4:
16-67940309-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940309A>G , CM000678.2:g.67940309A>G | GRCh38 |
| NC_000016.9:g.67974212A>G , CM000678.1:g.67974212A>G | GRCh37 |
| NC_000016.8:g.66531713A>G | NCBI36 |
| NG_009778.1:g.8804T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.918T>C MANE Select | ENSP00000264005.5:p.Phe306= | |
| ENST00000264005.9:c.918T>C | ENSP00000264005.5:p.Phe306= | |
| ENST00000570369.5:c.156-235T>C | ||
| ENST00000570980.1:c.702T>C | ENSP00000464651.1:p.Phe234= | |
| ENST00000573538.5:c.656T>C | ENSP00000463220.1:n.656T>C | |
| NM_000229.1:c.918T>C | NP_000220.1:p.Phe306= | |
| NM_000229.2:c.918T>C MANE Select | NP_000220.1:p.Phe306= |