Linked Data
dbSNP Id:
rs758516140
ExAC:
10:17171729 C / A
gnomAD v2:
10-17171729-C-A
gnomAD v4:
10-17129730-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17129730C>A , CM000672.2:g.17129730C>A | GRCh38 |
| NC_000010.10:g.17171729C>A , CM000672.1:g.17171729C>A | GRCh37 |
| NC_000010.9:g.17211735C>A | NCBI36 |
| NG_008967.1:g.5088G>T , LRG_540:g.5088G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.36G>T MANE Select | ENSP00000367064.4:p.Leu12Phe | |
| ENST00000377823.1:c.36G>T | ENSP00000367054.1:p.Leu12Phe | |
| ENST00000377833.8:c.36G>T | ENSP00000367064.4:p.Leu12Phe | |
| NM_001081.3:c.36G>T , LRG_540t1:c.36G>T | NP_001072.2:p.Leu12Phe | |
| XM_011519708.1:c.36G>T | XP_011518010.1:p.Leu12Phe | |
| XM_011519708.2:c.36G>T | XP_011518010.1:p.Leu12Phe | |
| NM_001081.4:c.36G>T MANE Select | NP_001072.2:p.Leu12Phe |