Linked Data
dbSNP Id:
rs755913771
ExAC:
4:155665856 C / A
gnomAD v2:
4-155665856-C-A
gnomAD v4:
4-154744704-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154744704C>A , CM000666.2:g.154744704C>A | GRCh38 |
| NC_000004.11:g.155665856C>A , CM000666.1:g.155665856C>A | GRCh37 |
| NC_000004.10:g.155885306C>A | NCBI36 |
| NG_009110.1:g.5694C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.378C>A MANE Select | ENSP00000337224.3:p.His126Gln | |
| ENST00000336356.3:c.378C>A | ENSP00000337224.3:p.His126Gln | |
| ENST00000499392.1:n.472-3485C>A | ||
| ENST00000507827.5:c.378C>A | ENSP00000426761.1:p.His126Gln | |
| ENST00000510733.1:n.705C>A | ||
| NM_001301645.1:c.378C>A | NP_001288574.1:p.His126Gln | |
| NM_004744.4:c.378C>A | NP_004735.2:p.His126Gln | |
| XM_006714412.2:c.378C>A | XP_006714475.1:p.His126Gln | |
| XR_938793.1:n.714C>A | ||
| XR_938793.2:n.710C>A | ||
| NM_004744.5:c.378C>A MANE Select | NP_004735.2:p.His126Gln | |
| NM_001301645.2:c.378C>A | NP_001288574.1:p.His126Gln |