Linked Data
ClinVar Variation Id:
3139987
ClinVar RCV Id:
RCV004430811
dbSNP Id:
rs1009890743
gnomAD v2:
5-54529072-C-G
gnomAD v3:
5-55233244-C-G
gnomAD v4:
5-55233244-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233244C>G , CM000667.2:g.55233244C>G | GRCh38 |
| NC_000005.9:g.54529072C>G , CM000667.1:g.54529072C>G | GRCh37 |
| NC_000005.8:g.54564829C>G | NCBI36 |
| NG_034201.1:g.5474G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.280G>C MANE Select | ENSP00000282572.4:p.Asp94His | |
| ENST00000282572.4:c.280G>C | ENSP00000282572.4:p.Asp94His | |
| ENST00000501463.2:c.280G>C | ENSP00000422485.1:p.Asp94His | |
| NM_021147.4:c.280G>C | NP_066970.3:p.Asp94His | |
| NR_125346.1:n.474G>C | ||
| NR_125347.1:n.474G>C | ||
| NM_021147.5:c.280G>C MANE Select | NP_066970.3:p.Asp94His | |
| NR_125346.2:n.365G>C | ||
| NR_125347.2:n.365G>C |