Linked Data
ClinVar Variation Id:
357240
ClinVar RCV Id:
RCV000394649
dbSNP Id:
rs886061553
gnomAD v3:
6-49430953-T-C
gnomAD v4:
6-49430953-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49430953T>C , CM000668.2:g.49430953T>C | GRCh38 |
| NC_000006.11:g.49398666T>C , CM000668.1:g.49398666T>C | GRCh37 |
| NC_000006.10:g.49506625T>C | NCBI36 |
| NG_007100.1:g.37187A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.*775A>G MANE Select | ENSP00000274813.3:n.*775A>G | |
| ENST00000274813.3:c.*775A>G | ENSP00000274813.3:n.*775A>G | |
| NM_000255.3:c.*775A>G | NP_000246.2:n.*775A>G | |
| XM_005249143.2:c.*775A>G | XP_005249200.1:n.*775A>G | |
| NM_000255.4:c.*775A>G MANE Select | NP_000246.2:n.*775A>G |