Linked Data
ClinVar Variation Id:
324117
ClinVar RCV Id:
RCV000298870
RCV000355982
RCV000392198
RCV000726816
RCV001079759
RCV002278497
RCV002365387
dbSNP Id:
rs201136122
ExAC:
17:48275325 G / A
gnomAD v2:
17-48275325-G-A
gnomAD v3:
17-50197964-G-A
gnomAD v4:
17-50197964-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50197964G>A , CM000679.2:g.50197964G>A | GRCh38 |
| NC_000017.10:g.48275325G>A , CM000679.1:g.48275325G>A | GRCh37 |
| NC_000017.9:g.45630324G>A | NCBI36 |
| NG_007400.1:g.8676C>T , LRG_1:g.8676C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.627C>T MANE Select | ENSP00000225964.6:p.Gly209= | |
| ENST00000225964.9:c.627C>T | ENSP00000225964.5:p.Gly209= | |
| ENST00000495677.1:n.354C>T | ||
| NM_000088.3:c.627C>T , LRG_1t1:c.627C>T | NP_000079.2:p.Gly209= | |
| XM_005257058.3:c.627C>T | XP_005257115.2:p.Gly209= | |
| XM_005257059.3:c.627C>T | XP_005257116.2:p.Gly209= | |
| XM_011524341.1:c.627C>T | XP_011522643.1:p.Gly209= | |
| XM_005257058.4:c.627C>T | XP_005257115.2:p.Gly209= | |
| XM_005257059.4:c.627C>T | XP_005257116.2:p.Gly209= | |
| NM_000088.4:c.627C>T MANE Select | NP_000079.2:p.Gly209= |