Linked Data
dbSNP Id:
rs2033711
gnomAD v2:
19-58999350-A-G
gnomAD v3:
19-58487983-A-G
gnomAD v4:
19-58487983-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.58487983A>G , CM000681.2:g.58487983A>G | GRCh38 |
| NC_000019.9:g.58999350A>G , CM000681.1:g.58999350A>G | GRCh37 |
| NC_000019.8:g.63691162A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000595851.5:c.*22-4337T>C (SLC27A5) | ENSP00000469512.1:n.*22-4337T>C | |
| NM_001304453.1:c.803-1307A>G (ZNF446) | NP_001291382.1:n.803-1307A>G | |
| XM_006723266.2:c.803-1307A>G (ZNF446) | XP_006723329.1:n.803-1307A>G | |
| XM_006723266.4:c.803-1307A>G (ZNF446) | XP_006723329.1:n.803-1307A>G | |
| XM_017026950.2:c.1005-1307A>G (ZNF446) | XP_016882439.1:n.1005-1307A>G |