Linked Data
ClinVar Variation Id:
553340
ClinVar RCV Id:
RCV000668762
dbSNP Id:
rs180177217
gnomAD v2:
2-241810125-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240870708G>C , CM000664.2:g.240870708G>C | GRCh38 |
| NC_000002.11:g.241810125G>C , CM000664.1:g.241810125G>C | GRCh37 |
| NC_000002.10:g.241458798G>C | NCBI36 |
| NG_008005.1:g.6964G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.423G>C MANE Select | ENSP00000302620.3:p.Glu141Asp | |
| ENST00000307503.3:c.423G>C | ENSP00000302620.3:p.Glu141Asp | |
| ENST00000472436.1:n.443G>C | ||
| NM_000030.2:c.423G>C | NP_000021.1:p.Glu141Asp | |
| NM_000030.3:c.423G>C MANE Select | NP_000021.1:p.Glu141Asp |