Linked Data
ClinVar Variation Id:
727495
ClinVar RCV Id:
RCV000901844
dbSNP Id:
rs756064646
ExAC:
14:100406407 G / A
gnomAD v2:
14-100406407-G-A
gnomAD v3:
14-99940070-G-A
gnomAD v4:
14-99940070-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99940070G>A , CM000676.2:g.99940070G>A | GRCh38 |
| NC_000014.8:g.100406407G>A , CM000676.1:g.100406407G>A | GRCh37 |
| NC_000014.7:g.99476160G>A | NCBI36 |
| NG_052827.1:g.207372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262233.11:c.2406G>A MANE Select | ENSP00000262233.7:p.Thr802= | |
| ENST00000649352.1:c.2481G>A | ENSP00000498100.1:p.Thr827= | |
| ENST00000262233.10:c.2406G>A | ENSP00000262233.6:p.Thr802= | |
| ENST00000327921.13:c.2370G>A | ENSP00000327384.9:p.Thr790= | |
| ENST00000334192.8:c.2463G>A | ENSP00000334314.4:p.Thr821= | |
| ENST00000553313.1:n.479G>A | ||
| NM_001008707.1:c.2463G>A | NP_001008707.1:p.Thr821= | |
| NM_004434.2:c.2406G>A | NP_004425.2:p.Thr802= | |
| XM_005267397.1:c.2463G>A | XP_005267454.1:p.Thr821= | |
| XM_005267398.3:c.2424G>A | XP_005267455.1:p.Thr808= | |
| XM_005267399.3:c.2481G>A | XP_005267456.2:p.Thr827= | |
| XM_005267400.3:c.2367G>A | XP_005267457.1:p.Thr789= | |
| XM_011536540.1:c.2424G>A | XP_011534842.1:p.Thr808= | |
| XM_011536541.1:c.2370G>A | XP_011534843.1:p.Thr790= | |
| XM_011536542.1:c.2349G>A | XP_011534844.1:p.Thr783= | |
| XM_005267399.4:c.2481G>A | XP_005267456.2:p.Thr827= | |
| XM_005267400.4:c.2367G>A | XP_005267457.1:p.Thr789= | |
| XM_011536540.2:c.2424G>A | XP_011534842.1:p.Thr808= | |
| XM_011536542.3:c.2349G>A | XP_011534844.1:p.Thr783= | |
| XM_017021074.2:c.2274G>A | XP_016876563.1:p.Thr758= | |
| XM_024449507.1:c.1842G>A | XP_024305275.1:p.Thr614= | |
| NM_001008707.2:c.2463G>A | NP_001008707.1:p.Thr821= | |
| NM_001375411.1:c.2367G>A | NP_001362340.1:p.Thr789= | |
| NM_001375412.1:c.2274G>A | NP_001362341.1:p.Thr758= | |
| NM_004434.3:c.2406G>A MANE Select | NP_004425.2:p.Thr802= |