Linked Data
ClinVar Variation Id:
995330
ClinVar RCV Id:
RCV001289358
dbSNP Id:
rs1708134992
gnomAD v4:
3-8745652-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745652G>A , CM000665.2:g.8745652G>A | GRCh38 |
| NC_000003.11:g.8787338G>A , CM000665.1:g.8787338G>A | GRCh37 |
| NC_000003.10:g.8762338G>A | NCBI36 |
| NG_008797.2:g.16843G>A , LRG_329:g.16843G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.241G>A MANE Select | ENSP00000341940.2:p.Gly81Ser | |
| ENST00000343849.2:c.241G>A | ENSP00000341940.2:p.Gly81Ser | |
| ENST00000397368.2:c.241G>A | ENSP00000380525.2:p.Gly81Ser | |
| ENST00000472766.1:n.155+11662G>A | ||
| NM_001234.4:c.241G>A | NP_001225.1:p.Gly81Ser | |
| NM_033337.2:c.241G>A , LRG_329t1:c.241G>A | NP_203123.1:p.Gly81Ser | |
| NM_001234.5:c.241G>A | NP_001225.1:p.Gly81Ser | |
| NM_033337.3:c.241G>A MANE Select | NP_203123.1:p.Gly81Ser |