Linked Data
dbSNP Id:
rs781027036
ExAC:
3:193185240 T / G
gnomAD v2:
3-193185240-T-G
gnomAD v4:
3-193467451-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193467451T>G , CM000665.2:g.193467451T>G | GRCh38 |
| NC_000003.11:g.193185240T>G , CM000665.1:g.193185240T>G | GRCh37 |
| NC_000003.10:g.194667934T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342695.9:c.979A>C MANE Select | ENSP00000339182.4:p.Lys327Gln | |
| ENST00000295548.3:c.979A>C | ENSP00000295548.3:p.Lys327Gln | |
| ENST00000342695.8:c.979A>C | ENSP00000339182.4:p.Lys327Gln | |
| ENST00000392443.7:c.979A>C | ENSP00000376238.3:p.Lys327Gln | |
| ENST00000450950.6:c.*422A>C | ENSP00000402023.2:n.*422A>C | |
| ENST00000490925.5:n.1087A>C | ||
| NM_032279.3:c.979A>C | NP_115655.2:p.Lys327Gln | |
| XM_005247829.2:c.979A>C | XP_005247886.1:p.Lys327Gln | |
| XM_011513232.1:c.979A>C | XP_011511534.1:p.Lys327Gln | |
| XR_241512.2:n.1280A>C | ||
| XR_924191.1:n.1280A>C | ||
| XM_011513232.2:c.979A>C | XP_011511534.1:p.Lys327Gln | |
| XM_017007318.1:c.652A>C | XP_016862807.1:p.Lys218Gln | |
| XM_017007319.1:c.979A>C | XP_016862808.1:p.Lys327Gln | |
| XR_001740324.2:n.1049A>C | ||
| XR_001740325.1:n.1049A>C | ||
| XR_002959602.1:n.1213A>C | ||
| XR_924191.3:n.1049A>C | ||
| NM_032279.4:c.979A>C MANE Select | NP_115655.2:p.Lys327Gln |