Linked Data
dbSNP Id:
rs781355040
ExAC:
3:93615453 A / G
gnomAD v2:
3-93615453-A-G
gnomAD v3:
3-93896609-A-G
gnomAD v4:
3-93896609-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93896609A>G , CM000665.2:g.93896609A>G | GRCh38 |
| NC_000003.11:g.93615453A>G , CM000665.1:g.93615453A>G | GRCh37 |
| NC_000003.10:g.95098143A>G | NCBI36 |
| NG_009813.1:g.82482T>C , LRG_572:g.82482T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.932T>C | ENSP00000330021.7:p.Leu311Ser | |
| ENST00000394236.9:c.932T>C MANE Select | ENSP00000377783.3:p.Leu311Ser | |
| ENST00000407433.6:c.887T>C | ENSP00000385794.2:p.Leu296Ser | |
| ENST00000647936.1:c.932T>C | ENSP00000496822.1:p.Leu311Ser | |
| ENST00000648381.1:n.1100T>C | ||
| ENST00000648853.1:c.890T>C | ENSP00000497262.1:p.Leu297Ser | |
| ENST00000649103.1:c.1031T>C | ENSP00000497962.1:n.1031T>C | |
| ENST00000650591.1:c.1028T>C | ENSP00000497376.1:p.Leu343Ser | |
| ENST00000394236.7:c.932T>C | ENSP00000377783.3:p.Leu311Ser | |
| ENST00000407433.5:c.539T>C | ENSP00000385794.1:p.Leu180Ser | |
| NM_000313.3:c.932T>C , LRG_572t1:c.932T>C | NP_000304.2:p.Leu311Ser | |
| NM_001314077.1:c.1028T>C , LRG_572t2:c.1028T>C | NP_001301006.1:p.Leu343Ser | |
| NM_000313.4:c.932T>C MANE Select | NP_000304.2:p.Leu311Ser | |
| NM_001314077.2:c.1028T>C | NP_001301006.1:p.Leu343Ser |