Linked Data
ClinVar Variation Id:
328348
dbSNP Id:
rs200500835
ExAC:
19:1399190 G / T
gnomAD v2:
19-1399190-G-T
gnomAD v3:
19-1399191-G-T
gnomAD v4:
19-1399191-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399191G>T , CM000681.2:g.1399191G>T | GRCh38 |
| NC_000019.9:g.1399190G>T , CM000681.1:g.1399190G>T | GRCh37 |
| NC_000019.8:g.1350190G>T | NCBI36 |
| NG_009785.1:g.7363C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.396C>A MANE Select | ENSP00000252288.1:p.Ile132= | |
| ENST00000447102.8:c.396C>A | ENSP00000403536.2:p.Ile132= | |
| ENST00000591788.3:c.79C>A | ||
| ENST00000640164.1:n.229C>A | ||
| ENST00000640762.1:c.327C>A | ENSP00000492031.1:p.Ile109= | |
| ENST00000252288.6:c.396C>A | ENSP00000252288.1:p.Ile132= | |
| ENST00000447102.7:c.396C>A | ENSP00000403536.2:p.Ile132= | |
| ENST00000591788.2:c.81C>A | ENSP00000466341.2:p.Ile27= | |
| NM_000156.5:c.396C>A | NP_000147.1:p.Ile132= | |
| NM_138924.2:c.396C>A | NP_620279.1:p.Ile132= | |
| NM_000156.6:c.396C>A MANE Select | NP_000147.1:p.Ile132= | |
| NM_138924.3:c.396C>A | NP_620279.1:p.Ile132= |