Linked Data
ClinVar Variation Id:
2799864
ClinVar RCV Id:
RCV003671177
dbSNP Id:
rs267605501
ExAC:
19:41847850 C / T
gnomAD v2:
19-41847850-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41341945C>T , CM000681.2:g.41341945C>T | GRCh38 |
| NC_000019.9:g.41847850C>T , CM000681.1:g.41847850C>T | GRCh37 |
| NC_000019.8:g.46539690C>T | NCBI36 |
| NG_013364.1:g.16982G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.798G>A MANE Select | ENSP00000221930.4:p.Glu266= | |
| ENST00000600196.2:c.712+225G>A | ENSP00000504008.1:n.712+225G>A | |
| ENST00000677934.1:c.634+2802G>A | ENSP00000504769.1:n.634+2802G>A | |
| ENST00000221930.5:c.798G>A | ENSP00000221930.4:p.Glu266= | |
| ENST00000598758.5:c.86G>A | ||
| ENST00000600196.1:n.172+225G>A | ||
| NM_000660.5:c.798G>A | NP_000651.3:p.Glu266= | |
| XM_011527242.1:c.801G>A | XP_011525544.1:p.Glu267= | |
| NM_000660.6:c.798G>A | NP_000651.3:p.Glu266= | |
| XM_011527242.2:c.801G>A | XP_011525544.1:p.Glu267= | |
| NM_000660.7:c.798G>A MANE Select | NP_000651.3:p.Glu266= |