Linked Data
ClinVar Variation Id:
199062
dbSNP Id:
rs547488738
ExAC:
11:118895957 C / G
gnomAD v2:
11-118895957-C-G
gnomAD v3:
11-119025247-C-G
gnomAD v4:
11-119025247-C-G
COSMIC:
COSM5980207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025247C>G , CM000673.2:g.119025247C>G | GRCh38 |
| NC_000011.9:g.118895957C>G , CM000673.1:g.118895957C>G | GRCh37 |
| NC_000011.8:g.118401167C>G | NCBI36 |
| NG_013331.1:g.10659G>C , LRG_187:g.10659G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1277G>C (SLC37A4) | ||
| ENST00000697845.1:n.2266G>C (SLC37A4) | ||
| ENST00000697846.1:n.1639G>C (SLC37A4) | ||
| ENST00000697847.1:n.1350G>C (SLC37A4) | ||
| ENST00000697849.1:n.3743G>C (SLC37A4) | ||
| ENST00000697850.1:n.1934G>C (SLC37A4) | ||
| ENST00000697851.1:n.2905G>C (SLC37A4) | ||
| ENST00000638186.1:n.1371G>C (SLC37A4) | ||
| ENST00000638360.1:n.1203G>C (SLC37A4) | ||
| ENST00000638925.1:n.1336G>C (SLC37A4) | ||
| ENST00000650539.1:n.1539G>C (SLC37A4) | ||
| ENST00000330775.9:c.1067G>C (SLC37A4) | ENSP00000476242.2:p.Ser356Thr | |
| ENST00000357590.9:c.1133G>C (SLC37A4) | ENSP00000476176.2:p.Ser378Thr | |
| ENST00000524428.5:n.1303G>C (SLC37A4) | ||
| ENST00000525039.5:n.1557G>C (SLC37A4) | ||
| ENST00000525102.5:n.1825G>C (SLC37A4) | ||
| ENST00000525372.5:n.1165G>C (SLC37A4) | ||
| ENST00000526275.5:n.1849G>C (SLC37A4) | ||
| ENST00000527992.5:n.1295G>C (SLC37A4) | ||
| ENST00000529510.5:n.755G>C (SLC37A4) | ||
| ENST00000530407.5:n.1217G>C (SLC37A4) | ||
| ENST00000532085.1:n.5085G>C (SLC37A4) | ||
| ENST00000533058.5:c.*198C>G (TRAPPC4) | ENSP00000432920.1:n.*198C>G | |
| ENST00000538950.5:c.848G>C (SLC37A4) | ENSP00000475991.2:p.Ser283Thr | |
| ENST00000545985.5:c.1067G>C (SLC37A4) | ENSP00000475241.2:p.Ser356Thr | |
| NM_001164277.1:c.1067G>C , LRG_187t1:c.1067G>C (SLC37A4) | NP_001157749.1:p.Ser356Thr | |
| NM_001164278.1:c.1133G>C (SLC37A4) | NP_001157750.1:p.Ser378Thr | |
| NM_001164279.1:c.848G>C (SLC37A4) | NP_001157751.1:p.Ser283Thr | |
| NM_001164280.1:c.1067G>C (SLC37A4) | NP_001157752.1:p.Ser356Thr | |
| NM_001467.5:c.1067G>C (SLC37A4) | NP_001458.1:p.Ser356Thr | |
| NM_001164278.2:c.1133G>C (SLC37A4) | NP_001157750.1:p.Ser378Thr | |
| NM_001164279.2:c.848G>C (SLC37A4) | NP_001157751.1:p.Ser283Thr | |
| NM_001164280.2:c.1067G>C (SLC37A4) | NP_001157752.1:p.Ser356Thr | |
| NM_001467.6:c.1067G>C (SLC37A4) | NP_001458.1:p.Ser356Thr | |
| NM_001164277.2:c.1067G>C (SLC37A4) MANE Select | NP_001157749.1:p.Ser356Thr |