Linked Data
ClinVar Variation Id:
1702183
dbSNP Id:
rs930476771
gnomAD v2:
17-48273697-C-T
gnomAD v3:
17-50196336-C-T
gnomAD v4:
17-50196336-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50196336C>T , CM000679.2:g.50196336C>T | GRCh38 |
| NC_000017.10:g.48273697C>T , CM000679.1:g.48273697C>T | GRCh37 |
| NC_000017.9:g.45628696C>T | NCBI36 |
| NG_007400.1:g.10304G>A , LRG_1:g.10304G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.935G>A MANE Select | ENSP00000225964.6:p.Arg312His | |
| ENST00000225964.9:c.935G>A | ENSP00000225964.5:p.Arg312His | |
| ENST00000485870.1:n.260G>A | ||
| NM_000088.3:c.935G>A , LRG_1t1:c.935G>A | NP_000079.2:p.Arg312His | |
| XM_005257058.3:c.935G>A | XP_005257115.2:p.Arg312His | |
| XM_005257059.3:c.935G>A | XP_005257116.2:p.Arg312His | |
| XM_011524341.1:c.935G>A | XP_011522643.1:p.Arg312His | |
| XM_005257058.4:c.935G>A | XP_005257115.2:p.Arg312His | |
| XM_005257059.4:c.935G>A | XP_005257116.2:p.Arg312His | |
| NM_000088.4:c.935G>A MANE Select | NP_000079.2:p.Arg312His |