Linked Data
ClinVar Variation Id:
542428
dbSNP Id:
rs148936043
ExAC:
19:2435154 G / A
gnomAD v2:
19-2435154-G-A
gnomAD v3:
19-2435156-G-A
gnomAD v4:
19-2435156-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2435156G>A , CM000681.2:g.2435156G>A | GRCh38 |
| NC_000019.9:g.2435154G>A , CM000681.1:g.2435154G>A | GRCh37 |
| NC_000019.8:g.2386154G>A | NCBI36 |
| NG_008355.1:g.26805C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325327.4:c.700C>T MANE Select | ENSP00000327054.3:p.Arg234Trp | |
| ENST00000325327.3:c.700C>T | ENSP00000327054.3:p.Arg234Trp | |
| ENST00000527409.1:n.336C>T | ||
| ENST00000534495.1:n.338C>T | ||
| NM_032737.3:c.700C>T | NP_116126.3:p.Arg234Trp | |
| XM_011528378.1:c.700C>T | XP_011526680.1:p.Arg234Trp | |
| XM_011528379.1:c.352C>T | XP_011526681.1:p.Arg118Trp | |
| NM_032737.4:c.700C>T MANE Select | NP_116126.3:p.Arg234Trp |