Linked Data
ClinVar Variation Id:
1885
ClinVar RCV Id:
RCV000001962
dbSNP Id:
rs121918255
ExAC:
6:49403186 C / G
gnomAD v2:
6-49403186-C-G
gnomAD v4:
6-49435473-C-G
PubMed:
PMID:7909321
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49435473C>G , CM000668.2:g.49435473C>G | GRCh38 |
| NC_000006.11:g.49403186C>G , CM000668.1:g.49403186C>G | GRCh37 |
| NC_000006.10:g.49511145C>G | NCBI36 |
| NG_007100.1:g.32667G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.2107G>C MANE Select | ENSP00000274813.3:p.Gly703Arg | |
| ENST00000274813.3:c.2107G>C | ENSP00000274813.3:p.Gly703Arg | |
| NM_000255.3:c.2107G>C | NP_000246.2:p.Gly703Arg | |
| XM_005249143.2:c.2107G>C | XP_005249200.1:p.Gly703Arg | |
| XM_005249143.3:c.2107G>C | XP_005249200.1:p.Gly703Arg | |
| NM_000255.4:c.2107G>C MANE Select | NP_000246.2:p.Gly703Arg |