Linked Data
ClinVar Variation Id:
320195
ClinVar RCV Id:
RCV000332593
dbSNP Id:
rs886052219
gnomAD v4:
16-67939892-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67939892A>G , CM000678.2:g.67939892A>G | GRCh38 |
| NC_000016.9:g.67973795A>G , CM000678.1:g.67973795A>G | GRCh37 |
| NC_000016.8:g.66531296A>G | NCBI36 |
| NG_009778.1:g.9221T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.*12T>C MANE Select | ENSP00000264005.5:n.*12T>C | |
| ENST00000264005.9:c.*12T>C | ENSP00000264005.5:n.*12T>C | |
| ENST00000570369.5:c.338T>C | ||
| ENST00000573538.5:c.1073T>C | ENSP00000463220.1:n.1073T>C | |
| NM_000229.1:c.*12T>C | NP_000220.1:n.*12T>C | |
| NM_000229.2:c.*12T>C MANE Select | NP_000220.1:n.*12T>C |