Linked Data
ClinVar Variation Id:
522690
ClinVar RCV Id:
RCV000625839
dbSNP Id:
rs727504020
ExAC:
6:49419304 G / C
gnomAD v2:
6-49419304-G-C
gnomAD v4:
6-49451591-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49451591G>C , CM000668.2:g.49451591G>C | GRCh38 |
| NC_000006.11:g.49419304G>C , CM000668.1:g.49419304G>C | GRCh37 |
| NC_000006.10:g.49527263G>C | NCBI36 |
| NG_007100.1:g.16549C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.1207C>G MANE Select | ENSP00000274813.3:p.Arg403Gly | |
| ENST00000274813.3:c.1207C>G | ENSP00000274813.3:p.Arg403Gly | |
| NM_000255.3:c.1207C>G | NP_000246.2:p.Arg403Gly | |
| XM_005249143.2:c.1207C>G | XP_005249200.1:p.Arg403Gly | |
| XM_005249143.3:c.1207C>G | XP_005249200.1:p.Arg403Gly | |
| NM_000255.4:c.1207C>G MANE Select | NP_000246.2:p.Arg403Gly |