Linked Data
ClinVar Variation Id:
2715318
ClinVar RCV Id:
RCV003518266
dbSNP Id:
rs1420322445
gnomAD v2:
17-48272090-C-T
gnomAD v4:
17-50194729-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194729C>T , CM000679.2:g.50194729C>T | GRCh38 |
| NC_000017.10:g.48272090C>T , CM000679.1:g.48272090C>T | GRCh37 |
| NC_000017.9:g.45627089C>T | NCBI36 |
| NG_007400.1:g.11911G>A , LRG_1:g.11911G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1453G>A MANE Select | ENSP00000225964.6:p.Gly485Ser | |
| ENST00000225964.9:c.1453G>A | ENSP00000225964.5:p.Gly485Ser | |
| ENST00000471344.1:n.397G>A | ||
| NM_000088.3:c.1453G>A , LRG_1t1:c.1453G>A | NP_000079.2:p.Gly485Ser | |
| XM_005257058.3:c.1453G>A | XP_005257115.2:p.Gly485Ser | |
| XM_005257059.3:c.957+1585G>A | XP_005257116.2:n.957+1585G>A | |
| XM_011524341.1:c.1255G>A | XP_011522643.1:p.Gly419Ser | |
| XM_005257058.4:c.1453G>A | XP_005257115.2:p.Gly485Ser | |
| XM_005257059.4:c.957+1585G>A | XP_005257116.2:n.957+1585G>A | |
| NM_000088.4:c.1453G>A MANE Select | NP_000079.2:p.Gly485Ser |