Linked Data
ClinVar Variation Id:
497057
ClinVar RCV Id:
RCV000597651
RCV001195780
RCV001101855
RCV002267738
RCV002289889
RCV002497243
RCV003235303
dbSNP Id:
rs146786552
ExAC:
1:94502906 C / T
gnomAD v2:
1-94502906-C-T
gnomAD v3:
1-94037350-C-T
gnomAD v4:
1-94037350-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94037350C>T , CM000663.2:g.94037350C>T | GRCh38 |
| NC_000001.10:g.94502906C>T , CM000663.1:g.94502906C>T | GRCh37 |
| NC_000001.9:g.94275494C>T | NCBI36 |
| NG_009073.1:g.88800G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3608G>A MANE Select | ENSP00000359245.3:p.Gly1203Glu | |
| ENST00000370225.3:c.3608G>A | ENSP00000359245.3:p.Gly1203Glu | |
| ENST00000536513.5:c.-17G>A | ENSP00000439707.2:n.-17G>A | |
| NM_000350.2:c.3608G>A | NP_000341.2:p.Gly1203Glu | |
| NM_000350.3:c.3608G>A MANE Select | NP_000341.2:p.Gly1203Glu |