Linked Data
ClinVar Variation Id:
6934
dbSNP Id:
rs121908979
ExAC:
11:118895667 G / A
gnomAD v2:
11-118895667-G-A
gnomAD v4:
11-119024957-G-A
PubMed:
PMID:10482962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119024957G>A , CM000673.2:g.119024957G>A | GRCh38 |
| NC_000011.9:g.118895667G>A , CM000673.1:g.118895667G>A | GRCh37 |
| NC_000011.8:g.118400877G>A | NCBI36 |
| NG_013331.1:g.10949C>T , LRG_187:g.10949C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1453C>T (SLC37A4) | ||
| ENST00000697845.1:n.2442C>T (SLC37A4) | ||
| ENST00000697846.1:n.1815C>T (SLC37A4) | ||
| ENST00000697847.1:n.1526C>T (SLC37A4) | ||
| ENST00000697849.1:n.3919C>T (SLC37A4) | ||
| ENST00000697850.1:n.2110C>T (SLC37A4) | ||
| ENST00000697851.1:n.3081C>T (SLC37A4) | ||
| ENST00000638186.1:n.1547C>T (SLC37A4) | ||
| ENST00000638360.1:n.1379C>T (SLC37A4) | ||
| ENST00000638925.1:n.1512C>T (SLC37A4) | ||
| ENST00000650539.1:n.1715C>T (SLC37A4) | ||
| ENST00000330775.9:c.1243C>T (SLC37A4) | ENSP00000476242.2:p.Arg415Ter | |
| ENST00000357590.9:c.1309C>T (SLC37A4) | ENSP00000476176.2:p.Arg437Ter | |
| ENST00000524428.5:n.1479C>T (SLC37A4) | ||
| ENST00000525039.5:n.1733C>T (SLC37A4) | ||
| ENST00000525102.5:n.2001C>T (SLC37A4) | ||
| ENST00000525372.5:n.1341C>T (SLC37A4) | ||
| ENST00000526275.5:n.2025C>T (SLC37A4) | ||
| ENST00000527992.5:n.1471C>T (SLC37A4) | ||
| ENST00000530407.5:n.1393C>T (SLC37A4) | ||
| ENST00000532085.1:n.5261C>T (SLC37A4) | ||
| ENST00000533058.5:c.682G>A (TRAPPC4) | ENSP00000432920.1:p.Val228Ile | |
| ENST00000538950.5:c.1024C>T (SLC37A4) | ENSP00000475991.2:p.Arg342Ter | |
| ENST00000545985.5:c.1243C>T (SLC37A4) | ENSP00000475241.2:p.Arg415Ter | |
| NM_001164277.1:c.1243C>T , LRG_187t1:c.1243C>T (SLC37A4) | NP_001157749.1:p.Arg415Ter | |
| NM_001164278.1:c.1309C>T (SLC37A4) | NP_001157750.1:p.Arg437Ter | |
| NM_001164279.1:c.1024C>T (SLC37A4) | NP_001157751.1:p.Arg342Ter | |
| NM_001164280.1:c.1243C>T (SLC37A4) | NP_001157752.1:p.Arg415Ter | |
| NM_001467.5:c.1243C>T (SLC37A4) | NP_001458.1:p.Arg415Ter | |
| NM_001164278.2:c.1309C>T (SLC37A4) | NP_001157750.1:p.Arg437Ter | |
| NM_001164279.2:c.1024C>T (SLC37A4) | NP_001157751.1:p.Arg342Ter | |
| NM_001164280.2:c.1243C>T (SLC37A4) | NP_001157752.1:p.Arg415Ter | |
| NM_001467.6:c.1243C>T (SLC37A4) | NP_001458.1:p.Arg415Ter | |
| NM_001164277.2:c.1243C>T (SLC37A4) MANE Select | NP_001157749.1:p.Arg415Ter |