Linked Data
dbSNP Id:
rs779779366
ExAC:
4:25158487 T / C
gnomAD v2:
4-25158487-T-C
gnomAD v3:
4-25156865-T-C
gnomAD v4:
4-25156865-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25156865T>C , CM000666.2:g.25156865T>C | GRCh38 |
| NC_000004.11:g.25158487T>C , CM000666.1:g.25158487T>C | GRCh37 |
| NC_000004.10:g.24767585T>C | NCBI36 |
| NG_028222.1:g.8718A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382103.7:c.379A>G MANE Select | ENSP00000371535.2:p.Lys127Glu | |
| ENST00000680581.1:c.379A>G | ENSP00000506483.1:p.Lys127Glu | |
| ENST00000680824.1:n.1595A>G | ||
| ENST00000681071.1:n.671A>G | ||
| ENST00000681166.1:n.1426A>G | ||
| ENST00000681341.1:n.1520A>G | ||
| ENST00000681640.1:n.473A>G | ||
| ENST00000681948.1:c.634A>G | ENSP00000505991.1:p.Lys212Glu | |
| ENST00000358971.7:c.*177A>G | ENSP00000351857.3:n.*177A>G | |
| ENST00000382103.6:c.379A>G | ENSP00000371535.2:p.Lys127Glu | |
| ENST00000514585.5:c.*80A>G | ENSP00000421880.1:n.*80A>G | |
| NM_016955.3:c.379A>G | NP_058651.3:p.Lys127Glu | |
| XM_005248168.2:c.142A>G | XP_005248225.1:p.Lys48Glu | |
| XM_006713965.2:c.199A>G | XP_006714028.1:p.Lys67Glu | |
| XM_011513846.1:c.376A>G | XP_011512148.1:p.Lys126Glu | |
| XM_011513847.1:c.346A>G | XP_011512149.1:p.Lys116Glu | |
| XM_011513848.1:c.199A>G | XP_011512150.1:p.Lys67Glu | |
| XM_011513846.2:c.376A>G | XP_011512148.1:p.Lys126Glu | |
| XM_011513847.2:c.346A>G | XP_011512149.1:p.Lys116Glu | |
| XM_017008277.1:c.634A>G | XP_016863766.1:p.Lys212Glu | |
| XM_017008278.1:c.-45A>G | XP_016863767.1:n.-45A>G | |
| NM_016955.4:c.379A>G MANE Select | NP_058651.3:p.Lys127Glu |