Linked Data
dbSNP Id:
rs1343257406
gnomAD v2:
3-93615448-A-T
gnomAD v3:
3-93896604-A-T
gnomAD v4:
3-93896604-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93896604A>T , CM000665.2:g.93896604A>T | GRCh38 |
| NC_000003.11:g.93615448A>T , CM000665.1:g.93615448A>T | GRCh37 |
| NC_000003.10:g.95098138A>T | NCBI36 |
| NG_009813.1:g.82487T>A , LRG_572:g.82487T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.937T>A | ENSP00000330021.7:p.Leu313Ile | |
| ENST00000394236.9:c.937T>A MANE Select | ENSP00000377783.3:p.Leu313Ile | |
| ENST00000407433.6:c.892T>A | ENSP00000385794.2:p.Leu298Ile | |
| ENST00000647936.1:c.937T>A | ENSP00000496822.1:p.Leu313Ile | |
| ENST00000648381.1:n.1105T>A | ||
| ENST00000648853.1:c.895T>A | ENSP00000497262.1:p.Leu299Ile | |
| ENST00000649103.1:c.1036T>A | ENSP00000497962.1:n.1036T>A | |
| ENST00000650591.1:c.1033T>A | ENSP00000497376.1:p.Leu345Ile | |
| ENST00000394236.7:c.937T>A | ENSP00000377783.3:p.Leu313Ile | |
| ENST00000407433.5:c.544T>A | ENSP00000385794.1:p.Leu182Ile | |
| NM_000313.3:c.937T>A , LRG_572t1:c.937T>A | NP_000304.2:p.Leu313Ile | |
| NM_001314077.1:c.1033T>A , LRG_572t2:c.1033T>A | NP_001301006.1:p.Leu345Ile | |
| NM_000313.4:c.937T>A MANE Select | NP_000304.2:p.Leu313Ile | |
| NM_001314077.2:c.1033T>A | NP_001301006.1:p.Leu345Ile |