Linked Data
ClinVar Variation Id:
734840
dbSNP Id:
rs145292067
ExAC:
14:100380995 C / T
gnomAD v2:
14-100380995-C-T
gnomAD v3:
14-99914658-C-T
gnomAD v4:
14-99914658-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99914658C>T , CM000676.2:g.99914658C>T | GRCh38 |
| NC_000014.8:g.100380995C>T , CM000676.1:g.100380995C>T | GRCh37 |
| NC_000014.7:g.99450748C>T | NCBI36 |
| NG_052827.1:g.181960C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262233.11:c.1713C>T MANE Select | ENSP00000262233.7:p.Asp571= | |
| ENST00000649352.1:c.1788C>T | ENSP00000498100.1:p.Asp596= | |
| ENST00000262233.10:c.1713C>T | ENSP00000262233.6:p.Asp571= | |
| ENST00000327921.13:c.1677C>T | ENSP00000327384.9:p.Asp559= | |
| ENST00000334192.8:c.1770C>T | ENSP00000334314.4:p.Asp590= | |
| ENST00000554111.1:n.1471C>T | ||
| ENST00000557313.5:c.83C>T | ||
| NM_001008707.1:c.1770C>T | NP_001008707.1:p.Asp590= | |
| NM_004434.2:c.1713C>T | NP_004425.2:p.Asp571= | |
| XM_005267397.1:c.1770C>T | XP_005267454.1:p.Asp590= | |
| XM_005267398.3:c.1731C>T | XP_005267455.1:p.Asp577= | |
| XM_005267399.3:c.1788C>T | XP_005267456.2:p.Asp596= | |
| XM_005267400.3:c.1674C>T | XP_005267457.1:p.Asp558= | |
| XM_011536540.1:c.1731C>T | XP_011534842.1:p.Asp577= | |
| XM_011536541.1:c.1677C>T | XP_011534843.1:p.Asp559= | |
| XM_011536542.1:c.1695+354C>T | XP_011534844.1:n.1695+354C>T | |
| XM_005267399.4:c.1788C>T | XP_005267456.2:p.Asp596= | |
| XM_005267400.4:c.1674C>T | XP_005267457.1:p.Asp558= | |
| XM_011536540.2:c.1731C>T | XP_011534842.1:p.Asp577= | |
| XM_011536542.3:c.1695+354C>T | XP_011534844.1:n.1695+354C>T | |
| XM_017021074.2:c.1620+354C>T | XP_016876563.1:n.1620+354C>T | |
| XM_024449507.1:c.1149C>T | XP_024305275.1:p.Asp383= | |
| NM_001008707.2:c.1770C>T | NP_001008707.1:p.Asp590= | |
| NM_001375411.1:c.1674C>T | NP_001362340.1:p.Asp558= | |
| NM_001375412.1:c.1620+354C>T | NP_001362341.1:n.1620+354C>T | |
| NM_004434.3:c.1713C>T MANE Select | NP_004425.2:p.Asp571= |