Linked Data
ClinVar Variation Id:
363983
dbSNP Id:
rs150859301
gnomAD v2:
8-96257515-G-A
gnomAD v3:
8-95245287-G-A
gnomAD v4:
8-95245287-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95245287G>A , CM000670.2:g.95245287G>A | GRCh38 |
| NC_000008.10:g.96257515G>A , CM000670.1:g.96257515G>A | GRCh37 |
| NC_000008.9:g.96326691G>A | NCBI36 |
| NG_032804.1:g.28948C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286688.6:c.*2330C>T MANE Select | ENSP00000286688.5:n.*2330C>T | |
| ENST00000286688.5:c.*2330C>T | ENSP00000286688.5:n.*2330C>T | |
| NM_177965.3:c.*2330C>T | NP_808880.1:n.*2330C>T | |
| NM_001363260.1:c.*2330C>T | NP_001350189.1:n.*2330C>T | |
| NM_177965.4:c.*2330C>T MANE Select | NP_808880.1:n.*2330C>T |