Linked Data
ClinVar Variation Id:
1080393
ClinVar RCV Id:
RCV001396000
dbSNP Id:
rs1767559349
gnomAD v4:
6-49451709-G-C
MyVariant Identifiers:
chr6:g.49419422G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49451709G>C , CM000668.2:g.49451709G>C | GRCh38 |
| NC_000006.11:g.49419422G>C , CM000668.1:g.49419422G>C | GRCh37 |
| NC_000006.10:g.49527381G>C | NCBI36 |
| NG_007100.1:g.16431C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1089C>G MANE Select | ENSP00000274813.3:p.Pro363= | |
| ENST00000274813.3:c.1089C>G | ENSP00000274813.3:p.Pro363= | |
| NM_000255.3:c.1089C>G | NP_000246.2:p.Pro363= | |
| XM_005249143.2:c.1089C>G | XP_005249200.1:p.Pro363= | |
| XM_005249143.3:c.1089C>G | XP_005249200.1:p.Pro363= | |
| NM_000255.4:c.1089C>G MANE Select | NP_000246.2:p.Pro363= |