Linked Data
dbSNP Id:
rs773695165
ExAC:
1:45966038 A / C
gnomAD v2:
1-45966038-A-C
gnomAD v4:
1-45500366-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500366A>C , CM000663.2:g.45500366A>C | GRCh38 |
| NC_000001.10:g.45966038A>C , CM000663.1:g.45966038A>C | GRCh37 |
| NC_000001.9:g.45738625A>C | NCBI36 |
| NG_013378.1:g.5183A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.34A>C MANE Select | ENSP00000383840.4:p.Ile12Leu | |
| ENST00000401061.8:c.34A>C | ENSP00000383840.4:p.Ile12Leu | |
| ENST00000616135.1:c.-138A>C | ENSP00000478859.1:n.-138A>C | |
| NM_015506.2:c.34A>C | NP_056321.2:p.Ile12Leu | |
| XM_005270724.3:c.34A>C | XP_005270781.1:p.Ile12Leu | |
| XM_011541204.1:c.-189A>C | XP_011539506.1:n.-189A>C | |
| NM_001330540.1:c.-189A>C | NP_001317469.1:n.-189A>C | |
| XM_005270724.5:c.34A>C | XP_005270781.1:p.Ile12Leu | |
| NM_015506.3:c.34A>C MANE Select | NP_056321.2:p.Ile12Leu | |
| NM_001330540.2:c.-189A>C | NP_001317469.1:n.-189A>C |