Linked Data
ClinVar Variation Id:
1109720
ClinVar RCV Id:
RCV001435679
dbSNP Id:
rs1767556787
gnomAD v3:
6-49451655-C-T
gnomAD v4:
6-49451655-C-T
MyVariant Identifiers:
chr6:g.49419368C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49451655C>T , CM000668.2:g.49451655C>T | GRCh38 |
| NC_000006.11:g.49419368C>T , CM000668.1:g.49419368C>T | GRCh37 |
| NC_000006.10:g.49527327C>T | NCBI36 |
| NG_007100.1:g.16485G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1143G>A MANE Select | ENSP00000274813.3:p.Gly381= | |
| ENST00000274813.3:c.1143G>A | ENSP00000274813.3:p.Gly381= | |
| NM_000255.3:c.1143G>A | NP_000246.2:p.Gly381= | |
| XM_005249143.2:c.1143G>A | XP_005249200.1:p.Gly381= | |
| XM_005249143.3:c.1143G>A | XP_005249200.1:p.Gly381= | |
| NM_000255.4:c.1143G>A MANE Select | NP_000246.2:p.Gly381= |