Linked Data
ClinVar Variation Id:
3128220
ClinVar RCV Id:
RCV004420123
dbSNP Id:
rs536123303
ExAC:
11:72423502 C / T
gnomAD v2:
11-72423502-C-T
gnomAD v3:
11-72712457-C-T
gnomAD v4:
11-72712457-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72712457C>T , CM000673.2:g.72712457C>T | GRCh38 |
| NC_000011.9:g.72423502C>T , CM000673.1:g.72423502C>T | GRCh37 |
| NC_000011.8:g.72101150C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393609.8:c.859G>A MANE Select | ENSP00000377233.3:p.Ala287Thr | |
| ENST00000334211.12:c.124G>A | ENSP00000335506.8:p.Ala42Thr | |
| ENST00000359373.9:c.859G>A | ENSP00000352332.5:p.Ala287Thr | |
| ENST00000393605.7:c.139G>A | ENSP00000377230.3:p.Ala47Thr | |
| ENST00000393609.7:c.859G>A | ENSP00000377233.3:p.Ala287Thr | |
| ENST00000426523.5:c.124G>A | ENSP00000392264.1:p.Ala42Thr | |
| ENST00000429686.5:c.124G>A | ENSP00000403127.1:p.Ala42Thr | |
| ENST00000465814.5:n.1196G>A | ||
| NM_001040118.2:c.859G>A | NP_001035207.1:p.Ala287Thr | |
| NM_001135190.1:c.124G>A | NP_001128662.1:p.Ala42Thr | |
| NM_015242.4:c.124G>A | NP_056057.2:p.Ala42Thr | |
| NM_001369489.1:c.124G>A | NP_001356418.1:p.Ala42Thr | |
| NR_161388.1:n.841G>A | ||
| NM_001040118.3:c.859G>A MANE Select | NP_001035207.1:p.Ala287Thr | |
| NM_001135190.2:c.124G>A | NP_001128662.1:p.Ala42Thr | |
| NM_015242.5:c.124G>A | NP_056057.2:p.Ala42Thr |