Linked Data
dbSNP Id:
rs41292521
ExAC:
1:51873967 G / A
gnomAD v2:
1-51873967-G-A
gnomAD v3:
1-51408295-G-A
gnomAD v4:
1-51408295-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.51408295G>A , CM000663.2:g.51408295G>A | GRCh38 |
| NC_000001.10:g.51873967G>A , CM000663.1:g.51873967G>A | GRCh37 |
| NC_000001.9:g.51646555G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000493793.2:c.371C>T | ENSP00000516332.1:p.Ser124Leu | |
| ENST00000706287.1:c.890C>T | ENSP00000516333.1:p.Ser297Leu | |
| ENST00000706288.1:c.1223C>T | ENSP00000516334.1:p.Ser408Leu | |
| ENST00000706289.1:n.559C>T | ||
| ENST00000706290.1:n.816C>T | ||
| ENST00000706291.1:c.*261C>T | ENSP00000516335.1:n.*261C>T | |
| ENST00000706292.1:c.1424C>T | ENSP00000516336.1:p.Ser475Leu | |
| ENST00000706293.1:c.*1276C>T | ENSP00000516337.1:n.*1276C>T | |
| ENST00000371733.8:c.1313C>T MANE Select | ENSP00000360798.3:p.Ser438Leu | |
| ENST00000371730.6:c.1275+1240C>T | ENSP00000360795.2:n.1275+1240C>T | |
| ENST00000371733.7:c.1313C>T | ENSP00000360798.3:p.Ser438Leu | |
| ENST00000493793.1:n.519C>T | ||
| NM_001159969.1:c.371C>T | NP_001153441.1:p.Ser124Leu | |
| NM_001981.2:c.1313C>T | NP_001972.1:p.Ser438Leu | |
| XM_005270618.1:c.1223C>T | XP_005270675.1:p.Ser408Leu | |
| XM_006710446.1:c.599C>T | XP_006710509.1:p.Ser200Leu | |
| XM_011540991.1:c.749C>T | XP_011539293.1:p.Ser250Leu | |
| XM_005270618.3:c.1223C>T | XP_005270675.1:p.Ser408Leu | |
| XM_017000615.2:c.1424C>T | XP_016856104.1:p.Ser475Leu | |
| XM_017000616.2:c.1424C>T | XP_016856105.1:p.Ser475Leu | |
| XM_017000617.2:c.1313C>T | XP_016856106.1:p.Ser438Leu | |
| XM_017000618.2:c.1223C>T | XP_016856107.1:p.Ser408Leu | |
| XM_017000619.2:c.749C>T | XP_016856108.1:p.Ser250Leu | |
| XM_017000620.2:c.599C>T | XP_016856109.1:p.Ser200Leu | |
| NM_001981.3:c.1313C>T MANE Select | NP_001972.1:p.Ser438Leu | |
| NM_001159969.2:c.371C>T | NP_001153441.1:p.Ser124Leu |