Linked Data
ClinVar Variation Id:
204129
ClinVar RCV Id:
RCV001852426
dbSNP Id:
rs146525143
ExAC:
2:241815397 G / C
gnomAD v2:
2-241815397-G-C
gnomAD v3:
2-240875980-G-C
gnomAD v4:
2-240875980-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875980G>C , CM000664.2:g.240875980G>C | GRCh38 |
| NC_000002.11:g.241815397G>C , CM000664.1:g.241815397G>C | GRCh37 |
| NC_000002.10:g.241464070G>C | NCBI36 |
| NG_008005.1:g.12236G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.822G>C MANE Select | ENSP00000302620.3:p.Glu274Asp | |
| ENST00000307503.3:c.822G>C | ENSP00000302620.3:p.Glu274Asp | |
| ENST00000476698.1:n.474G>C | ||
| NM_000030.2:c.822G>C | NP_000021.1:p.Glu274Asp | |
| NM_000030.3:c.822G>C MANE Select | NP_000021.1:p.Glu274Asp |