Linked Data
ClinVar Variation Id:
1966863
ClinVar RCV Id:
RCV002721603
dbSNP Id:
rs376094443
ExAC:
2:55870313 G / A
gnomAD v2:
2-55870313-G-A
gnomAD v3:
2-55643178-G-A
gnomAD v4:
2-55643178-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55643178G>A , CM000664.2:g.55643178G>A | GRCh38 |
| NC_000002.11:g.55870313G>A , CM000664.1:g.55870313G>A | GRCh37 |
| NC_000002.10:g.55723817G>A | NCBI36 |
| NG_033012.1:g.55733C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.2049C>T MANE Select | ENSP00000400646.2:p.Thr683= | |
| ENST00000260604.8:c.*1591C>T | ENSP00000260604.4:n.*1591C>T | |
| ENST00000415374.5:c.2049C>T | ENSP00000393953.1:p.Thr683= | |
| ENST00000447944.6:c.2049C>T | ENSP00000400646.2:p.Thr683= | |
| ENST00000481066.1:n.1111C>T | ||
| NM_033109.4:c.2049C>T | NP_149100.2:p.Thr683= | |
| XM_005264629.1:c.1809C>T | XP_005264686.1:p.Thr603= | |
| XM_005264629.2:c.1809C>T | XP_005264686.1:p.Thr603= | |
| XM_017005172.1:c.1809C>T | XP_016860661.1:p.Thr603= | |
| NM_033109.5:c.2049C>T MANE Select | NP_149100.2:p.Thr683= |