Linked Data
dbSNP Id:
rs1468858756
gnomAD v2:
1-5924049-G-T
gnomAD v3:
1-5863989-G-T
gnomAD v4:
1-5863989-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5863989G>T , CM000663.2:g.5863989G>T | GRCh38 |
| NC_000001.10:g.5924049G>T , CM000663.1:g.5924049G>T | GRCh37 |
| NC_000001.9:g.5846636G>T | NCBI36 |
| NG_011724.2:g.133483C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.4041C>A MANE Select | ENSP00000367398.4:p.Asn1347Lys | |
| ENST00000378156.8:c.4041C>A | ENSP00000367398.4:p.Asn1347Lys | |
| ENST00000378161.5:n.3192C>A | ||
| ENST00000378169.7:c.*2942C>A | ENSP00000367411.3:n.*2942C>A | |
| ENST00000460696.1:n.2789C>A | ||
| ENST00000478423.6:n.3773C>A | ||
| ENST00000489180.6:c.*1852C>A | ENSP00000423747.1:n.*1852C>A | |
| NM_001291593.1:c.2502C>A | NP_001278522.1:p.Asn834Lys | |
| NM_001291594.1:c.2505C>A | NP_001278523.1:p.Asn835Lys | |
| NM_015102.4:c.4041C>A | NP_055917.1:p.Asn1347Lys | |
| NR_111987.1:n.4856C>A | ||
| XM_006710563.2:c.4041C>A | XP_006710626.1:p.Asn1347Lys | |
| XM_006710565.2:c.4041C>A | XP_006710628.1:p.Asn1347Lys | |
| XM_011541213.1:c.4038C>A | XP_011539515.1:p.Asn1346Lys | |
| XM_011541214.1:c.3999C>A | XP_011539516.1:p.Asn1333Lys | |
| XM_011541215.1:c.3930C>A | XP_011539517.1:p.Asn1310Lys | |
| XM_011541216.1:c.4041C>A | XP_011539518.1:p.Asn1347Lys | |
| XM_011541217.1:c.4041C>A | XP_011539519.1:p.Asn1347Lys | |
| XM_011541218.1:c.4041C>A | XP_011539520.1:p.Asn1347Lys | |
| XM_011541219.1:c.3987C>A | XP_011539521.1:p.Asn1329Lys | |
| XM_006710563.3:c.4041C>A | XP_006710626.1:p.Asn1347Lys | |
| XM_011541216.2:c.4041C>A | XP_011539518.1:p.Asn1347Lys | |
| XM_011541217.2:c.4041C>A | XP_011539519.1:p.Asn1347Lys | |
| XM_011541218.2:c.4041C>A | XP_011539520.1:p.Asn1347Lys | |
| XM_017000996.1:c.3996C>A | XP_016856485.1:p.Asn1332Lys | |
| XM_017000997.1:c.4041C>A | XP_016856486.1:p.Asn1347Lys | |
| XM_017000999.1:c.3513C>A | XP_016856488.1:p.Asn1171Lys | |
| XM_017001000.2:c.3513C>A | XP_016856489.1:p.Asn1171Lys | |
| XM_017001001.1:c.3243C>A | XP_016856490.1:p.Asn1081Lys | |
| XM_017001003.1:c.2502C>A | XP_016856492.1:p.Asn834Lys | |
| XR_001737114.1:n.3907C>A | ||
| XR_001737115.1:n.3892C>A | ||
| NM_015102.5:c.4041C>A MANE Select | NP_055917.1:p.Asn1347Lys | |
| NM_001291593.2:c.2502C>A | NP_001278522.1:p.Asn834Lys | |
| NM_001291594.2:c.2505C>A | NP_001278523.1:p.Asn835Lys | |
| NR_111987.2:n.4808C>A |