Linked Data
dbSNP Id:
rs201110405
ExAC:
19:39734269 G / T
gnomAD v2:
19-39734269-G-T
gnomAD v3:
19-39243629-G-T
gnomAD v4:
19-39243629-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39243629G>T , CM000681.2:g.39243629G>T | GRCh38 |
| NC_000019.9:g.39734269G>T , CM000681.1:g.39734269G>T | GRCh37 |
| NC_000019.8:g.44426109G>T | NCBI36 |
| NG_042193.1:g.6343C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613087.5:c.*3C>A | ENSP00000481633.1:n.*3C>A | |
| ENST00000413851.3:c.*3C>A MANE Select | ENSP00000409000.2:n.*3C>A | |
| ENST00000413851.2:c.*3C>A | ENSP00000409000.2:n.*3C>A | |
| ENST00000613087.4:c.*3C>A | ENSP00000481633.1:n.*3C>A | |
| XM_005258765.3:c.*3C>A | XP_005258822.1:n.*3C>A | |
| XM_011526757.1:c.*3C>A | XP_011525059.1:n.*3C>A | |
| NM_001346937.1:c.606C>A | NP_001333866.1:n.606C>A | |
| NM_172139.3:c.*3C>A | NP_742151.2:n.*3C>A | |
| NM_172139.4:c.*3C>A MANE Select | NP_742151.2:n.*3C>A | |
| NM_001346937.2:c.*3C>A | NP_001333866.1:n.*3C>A |