Linked Data
ClinVar Variation Id:
1106716
ClinVar RCV Id:
RCV001431567
dbSNP Id:
rs755977989
ExAC:
6:49419392 T / C
gnomAD v2:
6-49419392-T-C
gnomAD v4:
6-49451679-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49451679T>C , CM000668.2:g.49451679T>C | GRCh38 |
| NC_000006.11:g.49419392T>C , CM000668.1:g.49419392T>C | GRCh37 |
| NC_000006.10:g.49527351T>C | NCBI36 |
| NG_007100.1:g.16461A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1119A>G MANE Select | ENSP00000274813.3:p.Glu373= | |
| ENST00000274813.3:c.1119A>G | ENSP00000274813.3:p.Glu373= | |
| NM_000255.3:c.1119A>G | NP_000246.2:p.Glu373= | |
| XM_005249143.2:c.1119A>G | XP_005249200.1:p.Glu373= | |
| XM_005249143.3:c.1119A>G | XP_005249200.1:p.Glu373= | |
| NM_000255.4:c.1119A>G MANE Select | NP_000246.2:p.Glu373= |