Linked Data
ClinVar Variation Id:
1127364
ClinVar RCV Id:
RCV001459751
dbSNP Id:
rs1198352263
MyVariant Identifiers:
chr19:g.1399130G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399131G>T , CM000681.2:g.1399131G>T | GRCh38 |
| NC_000019.9:g.1399130G>T , CM000681.1:g.1399130G>T | GRCh37 |
| NC_000019.8:g.1350130G>T | NCBI36 |
| NG_009785.1:g.7423C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.456C>A MANE Select | ENSP00000252288.1:p.Ile152= | |
| ENST00000447102.8:c.456C>A | ENSP00000403536.2:p.Ile152= | |
| ENST00000591788.3:c.139C>A | ||
| ENST00000640164.1:n.289C>A | ||
| ENST00000640762.1:c.387C>A | ENSP00000492031.1:p.Ile129= | |
| ENST00000252288.6:c.456C>A | ENSP00000252288.1:p.Ile152= | |
| ENST00000447102.7:c.456C>A | ENSP00000403536.2:p.Ile152= | |
| ENST00000591788.2:c.141C>A | ENSP00000466341.2:p.Ile47= | |
| NM_000156.5:c.456C>A | NP_000147.1:p.Ile152= | |
| NM_138924.2:c.456C>A | NP_620279.1:p.Ile152= | |
| NM_000156.6:c.456C>A MANE Select | NP_000147.1:p.Ile152= | |
| NM_138924.3:c.456C>A | NP_620279.1:p.Ile152= |