Linked Data
ClinVar Variation Id:
2171883
ClinVar RCV Id:
RCV003087145
dbSNP Id:
rs767096742
ExAC:
19:47112127 G / A
gnomAD v2:
19-47112127-G-A
gnomAD v4:
19-46608870-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46608870G>A , CM000681.2:g.46608870G>A | GRCh38 |
| NC_000019.9:g.47112127G>A , CM000681.1:g.47112127G>A | GRCh37 |
| NC_000019.8:g.51803967G>A | NCBI36 |
| NG_051331.1:g.12797G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291295.14:c.310G>A MANE Select | ENSP00000291295.8:p.Ala104Thr | |
| ENST00000595072.2:n.2739G>A | ||
| ENST00000602169.2:c.*346G>A | ENSP00000499372.1:n.*346G>A | |
| ENST00000291295.13:c.310G>A | ENSP00000291295.8:p.Ala104Thr | |
| ENST00000391918.6:c.202G>A | ENSP00000375785.2:p.Ala68Thr | |
| ENST00000477244.5:n.434G>A | ||
| ENST00000482455.5:n.420G>A | ||
| ENST00000486500.1:n.768G>A | ||
| ENST00000594523.5:c.202G>A | ENSP00000468877.1:p.Ala68Thr | |
| ENST00000595072.1:n.500G>A | ||
| ENST00000596362.1:c.310G>A | ENSP00000472141.1:p.Ala104Thr | |
| ENST00000597743.5:c.166-54G>A | ENSP00000470308.1:n.166-54G>A | |
| ENST00000597868.5:n.635G>A | ||
| ENST00000598871.5:c.202G>A | ENSP00000470502.1:p.Ala68Thr | |
| ENST00000599839.5:c.202G>A | ENSP00000471225.1:p.Ala68Thr | |
| NM_005184.2:c.310G>A | NP_005175.2:p.Ala104Thr | |
| NM_001329921.1:c.202G>A | NP_001316850.1:p.Ala68Thr | |
| NM_001329922.1:c.310G>A | NP_001316851.1:p.Ala104Thr | |
| NM_001329923.1:c.202G>A | NP_001316852.1:p.Ala68Thr | |
| NM_001329924.1:c.202G>A | NP_001316853.1:p.Ala68Thr | |
| NM_001329925.1:c.202G>A | NP_001316854.1:p.Ala68Thr | |
| NM_001329926.1:c.202G>A | NP_001316855.1:p.Ala68Thr | |
| NM_005184.3:c.310G>A | NP_005175.2:p.Ala104Thr | |
| NM_001329924.2:c.202G>A | NP_001316853.1:p.Ala68Thr | |
| NM_001329925.2:c.202G>A | NP_001316854.1:p.Ala68Thr | |
| NM_001329926.2:c.202G>A | NP_001316855.1:p.Ala68Thr | |
| NM_005184.4:c.310G>A MANE Select | NP_005175.2:p.Ala104Thr |