Linked Data
ClinVar Variation Id:
2191749
ClinVar RCV Id:
RCV002632976
dbSNP Id:
rs765087493
ExAC:
2:241808748 G / A
gnomAD v2:
2-241808748-G-A
gnomAD v4:
2-240869331-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869331G>A , CM000664.2:g.240869331G>A | GRCh38 |
| NC_000002.11:g.241808748G>A , CM000664.1:g.241808748G>A | GRCh37 |
| NC_000002.10:g.241457421G>A | NCBI36 |
| NG_008005.1:g.5587G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.327G>A MANE Select | ENSP00000302620.3:p.Gly109= | |
| ENST00000307503.3:c.327G>A | ENSP00000302620.3:p.Gly109= | |
| ENST00000472436.1:n.347G>A | ||
| NM_000030.2:c.327G>A | NP_000021.1:p.Gly109= | |
| XR_924060.1:n.405+902C>T | ||
| NM_000030.3:c.327G>A MANE Select | NP_000021.1:p.Gly109= |