Linked Data
ClinVar Variation Id:
1604589
ClinVar RCV Id:
RCV002134707
dbSNP Id:
rs746606611
ExAC:
19:12760932 C / T
gnomAD v2:
19-12760932-C-T
gnomAD v4:
19-12650118-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12650118C>T , CM000681.2:g.12650118C>T | GRCh38 |
| NC_000019.9:g.12760932C>T , CM000681.1:g.12760932C>T | GRCh37 |
| NC_000019.8:g.12621932C>T | NCBI36 |
| NG_008318.1:g.21660G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2151G>A MANE Select | ENSP00000395473.2:p.Gly717= | |
| ENST00000221363.8:c.2148G>A | ENSP00000221363.4:p.Gly716= | |
| ENST00000456935.6:c.2151G>A | ENSP00000395473.2:p.Gly717= | |
| ENST00000466794.5:n.2741G>A | ||
| NM_000528.3:c.2151G>A | NP_000519.2:p.Gly717= | |
| NM_001173498.1:c.2148G>A | NP_001166969.1:p.Gly716= | |
| XM_005259913.1:c.2154G>A | XP_005259970.1:p.Gly718= | |
| XM_011528017.1:c.1050G>A | XP_011526319.1:p.Gly350= | |
| XM_005259913.2:c.2154G>A | XP_005259970.1:p.Gly718= | |
| XM_024451518.1:c.1050G>A | XP_024307286.1:p.Gly350= | |
| NM_000528.4:c.2151G>A MANE Select | NP_000519.2:p.Gly717= | |
| NM_001173498.2:c.2148G>A | NP_001166969.1:p.Gly716= |