Linked Data
ClinVar Variation Id:
2446460
dbSNP Id:
rs1371496558
gnomAD v3:
19-1399148-G-A
gnomAD v4:
19-1399148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399148G>A , CM000681.2:g.1399148G>A | GRCh38 |
| NC_000019.9:g.1399147G>A , CM000681.1:g.1399147G>A | GRCh37 |
| NC_000019.8:g.1350147G>A | NCBI36 |
| NG_009785.1:g.7406C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.439C>T MANE Select | ENSP00000252288.1:p.His147Tyr | |
| ENST00000447102.8:c.439C>T | ENSP00000403536.2:p.His147Tyr | |
| ENST00000591788.3:c.122C>T | ||
| ENST00000640164.1:n.272C>T | ||
| ENST00000640762.1:c.370C>T | ENSP00000492031.1:p.His124Tyr | |
| ENST00000252288.6:c.439C>T | ENSP00000252288.1:p.His147Tyr | |
| ENST00000447102.7:c.439C>T | ENSP00000403536.2:p.His147Tyr | |
| ENST00000591788.2:c.124C>T | ENSP00000466341.2:p.His42Tyr | |
| NM_000156.5:c.439C>T | NP_000147.1:p.His147Tyr | |
| NM_138924.2:c.439C>T | NP_620279.1:p.His147Tyr | |
| NM_000156.6:c.439C>T MANE Select | NP_000147.1:p.His147Tyr | |
| NM_138924.3:c.439C>T | NP_620279.1:p.His147Tyr |