Linked Data
ClinVar Variation Id:
551256
ClinVar RCV Id:
RCV000666264
dbSNP Id:
rs782282206
ExAC:
11:118896035 C / G
gnomAD v2:
11-118896035-C-G
gnomAD v4:
11-119025325-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025325C>G , CM000673.2:g.119025325C>G | GRCh38 |
| NC_000011.9:g.118896035C>G , CM000673.1:g.118896035C>G | GRCh37 |
| NC_000011.8:g.118401245C>G | NCBI36 |
| NG_013331.1:g.10581G>C , LRG_187:g.10581G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1199G>C (SLC37A4) | ||
| ENST00000697845.1:n.2188G>C (SLC37A4) | ||
| ENST00000697846.1:n.1561G>C (SLC37A4) | ||
| ENST00000697847.1:n.1272G>C (SLC37A4) | ||
| ENST00000697849.1:n.3665G>C (SLC37A4) | ||
| ENST00000697850.1:n.1856G>C (SLC37A4) | ||
| ENST00000697851.1:n.2827G>C (SLC37A4) | ||
| ENST00000638186.1:n.1293G>C (SLC37A4) | ||
| ENST00000638360.1:n.1125G>C (SLC37A4) | ||
| ENST00000638925.1:n.1258G>C (SLC37A4) | ||
| ENST00000650539.1:n.1461G>C (SLC37A4) | ||
| ENST00000330775.9:c.989G>C (SLC37A4) | ENSP00000476242.2:p.Trp330Ser | |
| ENST00000357590.9:c.1055G>C (SLC37A4) | ENSP00000476176.2:p.Trp352Ser | |
| ENST00000524428.5:n.1225G>C (SLC37A4) | ||
| ENST00000525039.5:n.1479G>C (SLC37A4) | ||
| ENST00000525102.5:n.1747G>C (SLC37A4) | ||
| ENST00000525372.5:n.1087G>C (SLC37A4) | ||
| ENST00000526275.5:n.1771G>C (SLC37A4) | ||
| ENST00000527992.5:n.1217G>C (SLC37A4) | ||
| ENST00000529510.5:n.677G>C (SLC37A4) | ||
| ENST00000530407.5:n.1139G>C (SLC37A4) | ||
| ENST00000532085.1:n.5007G>C (SLC37A4) | ||
| ENST00000533058.5:c.*276C>G (TRAPPC4) | ENSP00000432920.1:n.*276C>G | |
| ENST00000538950.5:c.770G>C (SLC37A4) | ENSP00000475991.2:p.Trp257Ser | |
| ENST00000545985.5:c.989G>C (SLC37A4) | ENSP00000475241.2:p.Trp330Ser | |
| NM_001164277.1:c.989G>C , LRG_187t1:c.989G>C (SLC37A4) | NP_001157749.1:p.Trp330Ser | |
| NM_001164278.1:c.1055G>C (SLC37A4) | NP_001157750.1:p.Trp352Ser | |
| NM_001164279.1:c.770G>C (SLC37A4) | NP_001157751.1:p.Trp257Ser | |
| NM_001164280.1:c.989G>C (SLC37A4) | NP_001157752.1:p.Trp330Ser | |
| NM_001467.5:c.989G>C (SLC37A4) | NP_001458.1:p.Trp330Ser | |
| NM_001164278.2:c.1055G>C (SLC37A4) | NP_001157750.1:p.Trp352Ser | |
| NM_001164279.2:c.770G>C (SLC37A4) | NP_001157751.1:p.Trp257Ser | |
| NM_001164280.2:c.989G>C (SLC37A4) | NP_001157752.1:p.Trp330Ser | |
| NM_001467.6:c.989G>C (SLC37A4) | NP_001458.1:p.Trp330Ser | |
| NM_001164277.2:c.989G>C (SLC37A4) MANE Select | NP_001157749.1:p.Trp330Ser |