Linked Data
ClinVar Variation Id:
301181
ClinVar RCV Id:
RCV000267982
dbSNP Id:
rs886047318
gnomAD v3:
10-80273660-G-C
gnomAD v4:
10-80273660-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273660G>C , CM000672.2:g.80273660G>C | GRCh38 |
| NC_000010.10:g.82033416G>C , CM000672.1:g.82033416G>C | GRCh37 |
| NC_000010.9:g.82023396G>C | NCBI36 |
| NG_008083.1:g.21019C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.*121C>G MANE Select | ENSP00000361287.3:n.*121C>G | |
| ENST00000372213.7:c.*121C>G | ENSP00000361287.3:n.*121C>G | |
| ENST00000480845.1:n.541C>G | ||
| ENST00000485270.5:n.821C>G | ||
| NM_000429.2:c.*121C>G | NP_000420.1:n.*121C>G | |
| XM_005269842.3:c.*121C>G | XP_005269899.1:n.*121C>G | |
| XM_005269843.3:c.*121C>G | XP_005269900.1:n.*121C>G | |
| NM_000429.3:c.*121C>G MANE Select | NP_000420.1:n.*121C>G |