Linked Data
ClinVar Variation Id:
499063
ClinVar RCV Id:
RCV002532443
dbSNP Id:
rs759456867
ExAC:
1:120457977 C / T
gnomAD v2:
1-120457977-C-T
gnomAD v3:
1-119915354-C-T
gnomAD v4:
1-119915354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119915354C>T , CM000663.2:g.119915354C>T | GRCh38 |
| NC_000001.10:g.120457977C>T , CM000663.1:g.120457977C>T | GRCh37 |
| NC_000001.9:g.120259500C>T | NCBI36 |
| NG_008163.1:g.159300G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256646.7:c.7368G>A MANE Select | ENSP00000256646.2:p.Gly2456= | |
| ENST00000256646.6:c.7368G>A | ENSP00000256646.2:p.Gly2456= | |
| NM_024408.3:c.7368G>A | NP_077719.2:p.Gly2456= | |
| XM_005270901.2:c.7251G>A | XP_005270958.1:p.Gly2417= | |
| XM_011541519.1:c.7356G>A | XP_011539821.1:p.Gly2452= | |
| XM_011541520.1:c.7251G>A | XP_011539822.1:p.Gly2417= | |
| NM_024408.4:c.7368G>A MANE Select | NP_077719.2:p.Gly2456= |