Linked Data
ClinVar Variation Id:
810995
ClinVar RCV Id:
RCV001811570
dbSNP Id:
rs281864853
gnomAD v4:
16-173244-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173244C>A , CM000678.2:g.173244C>A | GRCh38 |
| NC_000016.9:g.223243C>A , CM000678.1:g.223243C>A | GRCh37 |
| NC_000016.8:g.163243C>A | NCBI36 |
| NG_000006.1:g.34107C>A | |
| NG_059186.1:g.1594C>A | |
| NG_059271.1:g.5398C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.215C>A MANE Select | ENSP00000251595.6:p.Ala72Glu | |
| ENST00000251595.10:c.215C>A | ENSP00000251595.6:p.Ala72Glu | |
| ENST00000397806.1:c.119C>A | ENSP00000380908.1:p.Ala40Glu | |
| ENST00000482565.1:n.351C>A | ||
| ENST00000484216.1:n.184C>A | ||
| NM_000517.4:c.215C>A | NP_000508.1:p.Ala72Glu | |
| NM_000517.6:c.215C>A MANE Select | NP_000508.1:p.Ala72Glu |