Linked Data
dbSNP Id:
rs1471828810
gnomAD v2:
19-7755241-T-G
gnomAD v3:
19-7690355-T-G
gnomAD v4:
19-7690355-T-G
MyVariant Identifiers:
chr19:g.7755241T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7690355T>G , CM000681.2:g.7690355T>G | GRCh38 |
| NC_000019.9:g.7755241T>G , CM000681.1:g.7755241T>G | GRCh37 |
| NC_000019.8:g.7661241T>G | NCBI36 |
| NG_029554.1:g.16792A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597921.6:c.621+51A>C MANE Select | ENSP00000471974.1:n.621+51A>C | |
| ENST00000346664.9:c.621+51A>C | ENSP00000264072.6:n.621+51A>C | |
| ENST00000360067.8:c.618+51A>C | ENSP00000353178.4:n.618+51A>C | |
| ENST00000597312.5:n.1146+51A>C | ||
| ENST00000597921.5:c.621+51A>C | ENSP00000471974.1:n.621+51A>C | |
| ENST00000597934.1:n.983+51A>C | ||
| ENST00000598803.5:n.1116+51A>C | ||
| NM_001207019.2:c.618+51A>C | NP_001193948.2:n.618+51A>C | |
| NM_001220500.1:c.621+51A>C | NP_001207429.1:n.621+51A>C | |
| NM_002002.4:c.621+51A>C | NP_001993.2:n.621+51A>C | |
| XM_005272462.3:c.621+51A>C | XP_005272519.1:n.621+51A>C | |
| XM_005272462.4:c.621+51A>C | XP_005272519.1:n.621+51A>C | |
| NM_001220500.2:c.621+51A>C MANE Select | NP_001207429.1:n.621+51A>C | |
| NM_001207019.3:c.618+51A>C | NP_001193948.2:n.618+51A>C | |
| NM_002002.5:c.621+51A>C | NP_001993.2:n.621+51A>C |