Linked Data
dbSNP Id:
rs143945817
gnomAD v2:
17-39883329-G-A
gnomAD v3:
17-41727077-G-A
gnomAD v4:
17-41727077-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41727077G>A , CM000679.2:g.41727077G>A | GRCh38 |
| NC_000017.10:g.39883329G>A , CM000679.1:g.39883329G>A | GRCh37 |
| NC_000017.9:g.37136855G>A | NCBI36 |
| NG_009090.2:g.64636C>T , LRG_401:g.64636C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347901.9:c.1343C>T MANE Select | ENSP00000334002.4:p.Ser448Leu | |
| ENST00000310778.5:c.1499C>T | ENSP00000309392.5:p.Ser500Leu | |
| ENST00000341193.9:c.1292C>T | ENSP00000343170.5:p.Ser431Leu | |
| ENST00000347901.8:c.1343C>T | ENSP00000334002.4:p.Ser448Leu | |
| ENST00000393939.6:c.1268C>T | ENSP00000377513.2:p.Ser423Leu | |
| NM_001079870.1:c.1292C>T | NP_001073339.1:p.Ser431Leu | |
| NM_001079871.1:c.1268C>T | NP_001073340.1:p.Ser423Leu | |
| NM_177977.2:c.1343C>T | NP_817084.2:p.Ser448Leu | |
| NM_001367459.1:c.1439C>T | NP_001354388.1:p.Ser480Leu | |
| NM_001367460.1:c.1403C>T | NP_001354389.1:p.Ser468Leu | |
| NM_001367461.1:c.1268C>T | NP_001354390.1:p.Ser423Leu | |
| NM_001367462.1:c.1268C>T | NP_001354391.1:p.Ser423Leu | |
| NM_177977.3:c.1343C>T MANE Select | NP_817084.2:p.Ser448Leu |