Linked Data
ClinVar Variation Id:
1543538
ClinVar RCV Id:
RCV002182093
dbSNP Id:
rs982989455
gnomAD v2:
20-10620422-C-T
gnomAD v3:
20-10639774-C-T
gnomAD v4:
20-10639774-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10639774C>T , CM000682.2:g.10639774C>T | GRCh38 |
| NC_000020.10:g.10620422C>T , CM000682.1:g.10620422C>T | GRCh37 |
| NC_000020.9:g.10568422C>T | NCBI36 |
| NG_007496.1:g.39273G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.3381G>A MANE Select | ENSP00000254958.4:p.Glu1127= | |
| ENST00000254958.9:c.3381G>A | ENSP00000254958.4:p.Glu1127= | |
| ENST00000423891.6:n.3247G>A | ||
| NM_000214.2:c.3381G>A | NP_000205.1:p.Glu1127= | |
| NM_000214.3:c.3381G>A MANE Select | NP_000205.1:p.Glu1127= |