Linked Data
ClinVar Variation Id:
15647
ClinVar RCV Id:
RCV000016933
RCV000022604
RCV000507591
RCV001831575
RCV002476983
RCV003989291
RCV004017256
dbSNP Id:
rs63750067
gnomAD v2:
16-223691-A-G
gnomAD v3:
16-173692-A-G
gnomAD v4:
16-173692-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173692A>G , CM000678.2:g.173692A>G | GRCh38 |
| NC_000016.9:g.223691A>G , CM000678.1:g.223691A>G | GRCh37 |
| NC_000016.8:g.163691A>G | NCBI36 |
| NG_000006.1:g.34555A>G | |
| NG_059186.1:g.2042A>G | |
| NG_059271.1:g.5846A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.*92A>G MANE Select | ENSP00000251595.6:n.*92A>G | |
| ENST00000251595.10:c.*92A>G | ENSP00000251595.6:n.*92A>G | |
| ENST00000397806.1:c.*92A>G | ENSP00000380908.1:n.*92A>G | |
| NM_000517.4:c.*92A>G | NP_000508.1:n.*92A>G | |
| NM_000517.6:c.*92A>G MANE Select | NP_000508.1:n.*92A>G |