Linked Data
ClinVar Variation Id:
1635977
ClinVar RCV Id:
RCV002125914
dbSNP Id:
rs752799460
gnomAD v4:
6-18121542-C-G
MyVariant Identifiers:
chr6:g.18121773C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18121542C>G , CM000668.2:g.18121542C>G | GRCh38 |
| NC_000006.11:g.18121773C>G , CM000668.1:g.18121773C>G | GRCh37 |
| NC_000006.10:g.18229752C>G | NCBI36 |
| NG_016750.1:g.6079G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340650.6:c.1065G>C MANE Select | ENSP00000345464.3:p.Pro355= | |
| ENST00000340650.4:c.1065G>C | ENSP00000345464.3:p.Pro355= | |
| NM_198586.2:c.1065G>C | NP_940988.2:p.Pro355= | |
| NM_198586.3:c.1065G>C MANE Select | NP_940988.2:p.Pro355= |