Linked Data
dbSNP Id:
rs749091020
ExAC:
18:21456322 A / T
gnomAD v2:
18-21456322-A-T
gnomAD v4:
18-23876358-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23876358A>T , CM000680.2:g.23876358A>T | GRCh38 |
| NC_000018.9:g.21456322A>T , CM000680.1:g.21456322A>T | GRCh37 |
| NC_000018.8:g.19710320A>T | NCBI36 |
| NG_007853.2:g.191761A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.236A>T MANE Plus Clinical | ENSP00000269217.5:p.Asn79Ile | |
| ENST00000313654.14:c.5063A>T MANE Select | ENSP00000324532.8:p.Asn1688Ile | |
| ENST00000649721.1:c.1955A>T | ENSP00000497885.1:p.Asn652Ile | |
| ENST00000269217.10:c.236A>T | ENSP00000269217.5:p.Asn79Ile | |
| ENST00000313654.13:c.5063A>T | ENSP00000324532.8:p.Asn1688Ile | |
| ENST00000399516.7:c.5063A>T | ENSP00000382432.2:p.Asn1688Ile | |
| ENST00000587184.5:c.236A>T | ENSP00000466557.1:p.Asn79Ile | |
| NM_000227.4:c.236A>T | NP_000218.3:p.Asn79Ile | |
| NM_001127717.2:c.5063A>T | NP_001121189.2:p.Asn1688Ile | |
| NM_001127718.2:c.236A>T | NP_001121190.2:p.Asn79Ile | |
| NM_198129.2:c.5063A>T | NP_937762.2:p.Asn1688Ile | |
| XM_011525978.1:c.5090A>T | XP_011524280.1:p.Asn1697Ile | |
| XM_011525979.1:c.5081A>T | XP_011524281.1:p.Asn1694Ile | |
| XM_011525980.1:c.5072A>T | XP_011524282.1:p.Asn1691Ile | |
| XM_011525981.1:c.4958A>T | XP_011524283.1:p.Asn1653Ile | |
| XM_011525982.1:c.5090A>T | XP_011524284.1:p.Asn1697Ile | |
| XM_011525978.2:c.5090A>T | XP_011524280.1:p.Asn1697Ile | |
| XM_011525979.2:c.5081A>T | XP_011524281.1:p.Asn1694Ile | |
| XM_011525980.2:c.5072A>T | XP_011524282.1:p.Asn1691Ile | |
| XM_011525981.2:c.4958A>T | XP_011524283.1:p.Asn1653Ile | |
| XM_011525982.2:c.5090A>T | XP_011524284.1:p.Asn1697Ile | |
| XM_017025743.1:c.2942A>T | XP_016881232.1:p.Asn981Ile | |
| XM_017025744.1:c.632A>T | XP_016881233.1:p.Asn211Ile | |
| XR_001753199.1:n.5331A>T | ||
| NM_000227.5:c.236A>T | NP_000218.3:p.Asn79Ile | |
| NM_001127717.3:c.5063A>T | NP_001121189.2:p.Asn1688Ile | |
| NM_001127718.3:c.236A>T | NP_001121190.2:p.Asn79Ile | |
| NM_198129.3:c.5063A>T | NP_937762.2:p.Asn1688Ile | |
| NM_000227.6:c.236A>T MANE Plus Clinical | NP_000218.3:p.Asn79Ile | |
| NM_001127717.4:c.5063A>T | NP_001121189.2:p.Asn1688Ile | |
| NM_001127718.4:c.236A>T | NP_001121190.2:p.Asn79Ile | |
| NM_198129.4:c.5063A>T MANE Select | NP_937762.2:p.Asn1688Ile |