Linked Data
ClinVar Variation Id:
2279877
ClinVar RCV Id:
RCV002813984
dbSNP Id:
rs753699979
ExAC:
2:16085740 G / A
gnomAD v2:
2-16085740-G-A
gnomAD v3:
2-15945618-G-A
gnomAD v4:
2-15945618-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945618G>A , CM000664.2:g.15945618G>A | GRCh38 |
| NC_000002.11:g.16085740G>A , CM000664.1:g.16085740G>A | GRCh37 |
| NC_000002.10:g.16003191G>A | NCBI36 |
| NG_007457.1:g.10058G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.265G>A | ||
| ENST00000281043.4:c.916G>A MANE Select | ENSP00000281043.3:p.Ala306Thr | |
| ENST00000638417.1:c.283G>A | ENSP00000491476.1:p.Ala95Thr | |
| ENST00000281043.3:c.916G>A | ENSP00000281043.3:p.Ala306Thr | |
| NM_001293228.1:c.916G>A | NP_001280157.1:p.Ala306Thr | |
| NM_001293231.1:c.283G>A | NP_001280160.1:p.Ala95Thr | |
| NM_001293233.1:c.*851G>A | NP_001280162.1:n.*851G>A | |
| NM_005378.5:c.916G>A | NP_005369.2:p.Ala306Thr | |
| NM_005378.6:c.916G>A MANE Select | NP_005369.2:p.Ala306Thr | |
| NM_001293228.2:c.916G>A | NP_001280157.1:p.Ala306Thr | |
| NM_001293231.2:c.283G>A | NP_001280160.1:p.Ala95Thr | |
| NM_001293233.2:c.*851G>A | NP_001280162.1:n.*851G>A |