Linked Data
dbSNP Id:
rs747660379
ExAC:
19:51295066 G / C
gnomAD v2:
19-51295066-G-C
gnomAD v4:
19-50791809-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50791809G>C , CM000681.2:g.50791809G>C | GRCh38 |
| NC_000019.9:g.51295066G>C , CM000681.1:g.51295066G>C | GRCh37 |
| NC_000019.8:g.55986878G>C | NCBI36 |
| NG_052652.1:g.6395G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270593.2:c.450+7G>C (ACP4) MANE Select | ENSP00000270593.1:n.450+7G>C | |
| ENST00000636757.1:c.-60+596C>G (SMIM47) | ENSP00000489695.1:n.-60+596C>G | |
| ENST00000270593.1:c.450+7G>C (ACP4) | ENSP00000270593.1:n.450+7G>C | |
| NM_033068.2:c.450+7G>C (ACP4) | NP_149059.1:n.450+7G>C | |
| XR_936026.1:n.424+596C>G | ||
| XR_936026.2:n.434+596C>G | ||
| NM_033068.3:c.450+7G>C (ACP4) MANE Select | NP_149059.1:n.450+7G>C |