Linked Data
ClinVar Variation Id:
13226
dbSNP Id:
rs121918557
ExAC:
3:165547750 A / T
gnomAD v2:
3-165547750-A-T
gnomAD v3:
3-165829962-A-T
gnomAD v4:
3-165829962-A-T
PubMed:
PMID:9388484
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829962A>T , CM000665.2:g.165829962A>T | GRCh38 |
| NC_000003.11:g.165547750A>T , CM000665.1:g.165547750A>T | GRCh37 |
| NC_000003.10:g.167030444A>T | NCBI36 |
| NG_009031.1:g.12504T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1072T>A MANE Select | ENSP00000264381.3:p.Leu358Ile | |
| ENST00000264381.7:c.1072T>A | ENSP00000264381.3:p.Leu358Ile | |
| ENST00000479451.5:c.107+7352T>A | ENSP00000418325.1:n.107+7352T>A | |
| ENST00000482958.1:c.1072T>A | ENSP00000419804.1:p.Leu358Ile | |
| ENST00000488954.1:c.107+7352T>A | ENSP00000418504.1:n.107+7352T>A | |
| ENST00000497011.5:c.1072T>A | ENSP00000419505.1:p.Leu358Ile | |
| NM_000055.2:c.1072T>A | NP_000046.1:p.Leu358Ile | |
| XM_005247685.1:c.1195T>A | XP_005247742.1:p.Leu399Ile | |
| NM_000055.3:c.1072T>A | NP_000046.1:p.Leu358Ile | |
| NR_137635.1:n.159+7352T>A | ||
| NR_137636.1:n.1239T>A | ||
| NM_000055.4:c.1072T>A MANE Select | NP_000046.1:p.Leu358Ile | |
| NR_137635.2:n.110+7352T>A | ||
| NR_137636.2:n.1190T>A |