Linked Data
dbSNP Id:
rs770242971
ExAC:
19:51295044 C / T
gnomAD v2:
19-51295044-C-T
gnomAD v4:
19-50791787-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50791787C>T , CM000681.2:g.50791787C>T | GRCh38 |
| NC_000019.9:g.51295044C>T , CM000681.1:g.51295044C>T | GRCh37 |
| NC_000019.8:g.55986856C>T | NCBI36 |
| NG_052652.1:g.6373C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270593.2:c.435C>T (ACP4) MANE Select | ENSP00000270593.1:p.Pro145= | |
| ENST00000636757.1:c.-60+618G>A (SMIM47) | ENSP00000489695.1:n.-60+618G>A | |
| ENST00000270593.1:c.435C>T (ACP4) | ENSP00000270593.1:p.Pro145= | |
| NM_033068.2:c.435C>T (ACP4) | NP_149059.1:p.Pro145= | |
| XR_936026.1:n.424+618G>A | ||
| XR_936026.2:n.434+618G>A | ||
| NM_033068.3:c.435C>T (ACP4) MANE Select | NP_149059.1:p.Pro145= |