Linked Data
dbSNP Id:
rs769781885
ExAC:
2:108994934 C / T
gnomAD v2:
2-108994934-C-T
gnomAD v4:
2-108378478-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108378478C>T , CM000664.2:g.108378478C>T | GRCh38 |
| NC_000002.11:g.108994934C>T , CM000664.1:g.108994934C>T | GRCh37 |
| NC_000002.10:g.108361366C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272452.7:c.141C>T MANE Select | ENSP00000272452.2:p.Asp47= | |
| ENST00000272452.6:c.141C>T | ENSP00000272452.2:p.Asp47= | |
| ENST00000409309.3:c.141C>T | ENSP00000387225.3:p.Asp47= | |
| ENST00000494122.1:n.568C>T | ||
| NM_006588.2:c.141C>T | NP_006579.2:p.Asp47= | |
| XM_005263919.2:c.141C>T | XP_005263976.1:p.Asp47= | |
| NM_001321770.1:c.141C>T | NP_001308699.1:p.Asp47= | |
| NM_006588.3:c.141C>T | NP_006579.2:p.Asp47= | |
| NR_135776.1:n.568C>T | ||
| NR_135779.1:n.568C>T | ||
| XM_017003807.1:c.-180C>T | XP_016859296.1:n.-180C>T | |
| NM_006588.4:c.141C>T MANE Select | NP_006579.2:p.Asp47= | |
| NM_001321770.2:c.141C>T | NP_001308699.1:p.Asp47= | |
| NR_135776.2:n.525C>T | ||
| NR_135779.2:n.525C>T |