Linked Data
ClinVar Variation Id:
99596
dbSNP Id:
rs61748437
ExAC:
19:48339565 G / A
gnomAD v2:
19-48339565-G-A
gnomAD v3:
19-47836308-G-A
gnomAD v4:
19-47836308-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47836308G>A , CM000681.2:g.47836308G>A | GRCh38 |
| NC_000019.9:g.48339565G>A , CM000681.1:g.48339565G>A | GRCh37 |
| NC_000019.8:g.53031377G>A | NCBI36 |
| NG_008605.1:g.19467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221996.12:c.166G>A MANE Select | ENSP00000221996.5:p.Ala56Thr | |
| ENST00000221996.11:c.166G>A | ENSP00000221996.5:p.Ala56Thr | |
| ENST00000539067.5:c.166G>A | ENSP00000445565.1:p.Ala56Thr | |
| ENST00000556527.1:n.143G>A | ||
| ENST00000566686.5:c.166G>A | ENSP00000457808.2:p.Ala56Thr | |
| ENST00000613299.1:c.100+1765G>A | ENSP00000478106.1:n.100+1765G>A | |
| NM_000554.4:c.166G>A | NP_000545.1:p.Ala56Thr | |
| NM_000554.5:c.166G>A | NP_000545.1:p.Ala56Thr | |
| NM_000554.6:c.166G>A MANE Select | NP_000545.1:p.Ala56Thr |