Linked Data
dbSNP Id:
rs375359671
ExAC:
14:103566879 C / T
gnomAD v2:
14-103566879-C-T
gnomAD v3:
14-103100542-C-T
gnomAD v4:
14-103100542-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103100542C>T , CM000676.2:g.103100542C>T | GRCh38 |
| NC_000014.8:g.103566879C>T , CM000676.1:g.103566879C>T | GRCh37 |
| NC_000014.7:g.102636632C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687959.1:c.323C>T | ENSP00000508483.1:p.Ser108Leu | |
| ENST00000688303.1:c.323C>T MANE Select | ENSP00000509130.1:p.Ser108Leu | |
| ENST00000380069.7:c.323C>T | ENSP00000369409.3:p.Ser108Leu | |
| ENST00000559116.1:c.215C>T | ENSP00000454163.1:p.Ser72Leu | |
| NM_001077594.1:c.323C>T | NP_001071062.1:p.Ser108Leu | |
| XM_011537323.1:c.497C>T | XP_011535625.1:p.Ser166Leu | |
| XM_011537324.1:c.497C>T | XP_011535626.1:p.Ser166Leu | |
| XM_011537325.1:c.323C>T | XP_011535627.1:p.Ser108Leu | |
| XM_011537326.1:c.323C>T | XP_011535628.1:p.Ser108Leu | |
| XM_011537327.1:c.323C>T | XP_011535629.1:p.Ser108Leu | |
| XM_011537328.1:c.323C>T | XP_011535630.1:p.Ser108Leu | |
| XM_011537329.1:c.323C>T | XP_011535631.1:p.Ser108Leu | |
| XM_011537330.1:c.323C>T | XP_011535632.1:p.Ser108Leu | |
| XM_011537331.1:c.323C>T | XP_011535633.1:p.Ser108Leu | |
| XM_011537332.1:c.323C>T | XP_011535634.1:p.Ser108Leu | |
| XM_011537333.1:c.434C>T | XP_011535635.1:p.Ser145Leu | |
| XM_011537334.1:c.-953C>T | XP_011535636.1:n.-953C>T | |
| XR_943558.1:n.1052C>T | ||
| XM_011537323.3:c.497C>T | XP_011535625.1:p.Ser166Leu | |
| XM_011537324.2:c.497C>T | XP_011535626.1:p.Ser166Leu | |
| XM_011537325.2:c.323C>T | XP_011535627.1:p.Ser108Leu | |
| XM_011537327.2:c.323C>T | XP_011535629.1:p.Ser108Leu | |
| XM_011537328.2:c.323C>T | XP_011535630.1:p.Ser108Leu | |
| XM_011537329.2:c.323C>T | XP_011535631.1:p.Ser108Leu | |
| XM_011537330.2:c.323C>T | XP_011535632.1:p.Ser108Leu | |
| XM_011537332.2:c.323C>T | XP_011535634.1:p.Ser108Leu | |
| XM_011537333.2:c.434C>T | XP_011535635.1:p.Ser145Leu | |
| XR_943558.2:n.1079C>T | ||
| NM_001077594.2:c.323C>T MANE Select | NP_001071062.1:p.Ser108Leu | |
| NM_001394941.1:c.323C>T | NP_001381870.1:p.Ser108Leu | |
| NM_001394942.1:c.323C>T | NP_001381871.1:p.Ser108Leu |