Linked Data
ClinVar Variation Id:
1059226
dbSNP Id:
rs1010921007
gnomAD v3:
19-1401323-C-T
gnomAD v4:
19-1401323-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401323C>T , CM000681.2:g.1401323C>T | GRCh38 |
| NC_000019.9:g.1401322C>T , CM000681.1:g.1401322C>T | GRCh37 |
| NC_000019.8:g.1352322C>T | NCBI36 |
| NG_009785.1:g.5231G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.154G>A MANE Select | ENSP00000252288.1:p.Ala52Thr | |
| ENST00000447102.8:c.154G>A | ENSP00000403536.2:p.Ala52Thr | |
| ENST00000640762.1:c.112+42G>A | ENSP00000492031.1:n.112+42G>A | |
| ENST00000252288.6:c.154G>A | ENSP00000252288.1:p.Ala52Thr | |
| ENST00000447102.7:c.154G>A | ENSP00000403536.2:p.Ala52Thr | |
| NM_000156.5:c.154G>A | NP_000147.1:p.Ala52Thr | |
| NM_138924.2:c.154G>A | NP_620279.1:p.Ala52Thr | |
| NM_000156.6:c.154G>A MANE Select | NP_000147.1:p.Ala52Thr | |
| NM_138924.3:c.154G>A | NP_620279.1:p.Ala52Thr |