Linked Data
dbSNP Id:
rs879842693
gnomAD v2:
4-25146426-A-C
gnomAD v3:
4-25144804-A-C
gnomAD v4:
4-25144804-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25144804A>C , CM000666.2:g.25144804A>C | GRCh38 |
| NC_000004.11:g.25146426A>C , CM000666.1:g.25146426A>C | GRCh37 |
| NC_000004.10:g.24755524A>C | NCBI36 |
| NG_028222.1:g.20779T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382103.7:c.996T>G MANE Select | ENSP00000371535.2:p.Asn332Lys | |
| ENST00000680581.1:c.996T>G | ENSP00000506483.1:p.Asn332Lys | |
| ENST00000680824.1:n.2212T>G | ||
| ENST00000681071.1:n.1288T>G | ||
| ENST00000681341.1:n.2137T>G | ||
| ENST00000681948.1:c.1251T>G | ENSP00000505991.1:p.Asn417Lys | |
| ENST00000358971.7:c.*794T>G | ENSP00000351857.3:n.*794T>G | |
| ENST00000382103.6:c.996T>G | ENSP00000371535.2:p.Asn332Lys | |
| ENST00000503150.1:c.278T>G | ||
| ENST00000505513.1:n.296T>G | ||
| ENST00000514585.5:c.*697T>G | ENSP00000421880.1:n.*697T>G | |
| NM_016955.3:c.996T>G | NP_058651.3:p.Asn332Lys | |
| XM_005248168.2:c.759T>G | XP_005248225.1:p.Asn253Lys | |
| XM_006713965.2:c.816T>G | XP_006714028.1:p.Asn272Lys | |
| XM_011513846.1:c.993T>G | XP_011512148.1:p.Asn331Lys | |
| XM_011513847.1:c.963T>G | XP_011512149.1:p.Asn321Lys | |
| XM_011513848.1:c.816T>G | XP_011512150.1:p.Asn272Lys | |
| XM_011513846.2:c.993T>G | XP_011512148.1:p.Asn331Lys | |
| XM_011513847.2:c.963T>G | XP_011512149.1:p.Asn321Lys | |
| XM_017008277.1:c.1251T>G | XP_016863766.1:p.Asn417Lys | |
| XM_017008278.1:c.573T>G | XP_016863767.1:p.Asn191Lys | |
| NM_016955.4:c.996T>G MANE Select | NP_058651.3:p.Asn332Lys |