Linked Data
ClinVar Variation Id:
2896800
ClinVar RCV Id:
RCV003733112
dbSNP Id:
rs757404600
ExAC:
6:108215084 C / T
gnomAD v2:
6-108215084-C-T
gnomAD v3:
6-107893880-C-T
gnomAD v4:
6-107893880-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107893880C>T , CM000668.2:g.107893880C>T | GRCh38 |
| NC_000006.11:g.108215084C>T , CM000668.1:g.108215084C>T | GRCh37 |
| NC_000006.10:g.108321777C>T | NCBI36 |
| NG_008270.1:g.69399G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.1458G>A MANE Select | ENSP00000357998.4:p.Glu486= | |
| ENST00000369002.8:c.1458G>A | ENSP00000357998.4:p.Glu486= | |
| ENST00000466419.1:n.306G>A | ||
| NM_007214.4:c.1458G>A | NP_009145.1:p.Glu486= | |
| XM_011535399.1:c.1290G>A | XP_011533701.1:p.Glu430= | |
| XM_017010218.2:c.360G>A | XP_016865707.1:p.Glu120= | |
| NM_007214.5:c.1458G>A MANE Select | NP_009145.1:p.Glu486= |