Linked Data
ClinVar Variation Id:
290205
dbSNP Id:
rs771031903
ExAC:
14:77786941 G / A
gnomAD v2:
14-77786941-G-A
gnomAD v3:
14-77320598-G-A
gnomAD v4:
14-77320598-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77320598G>A , CM000676.2:g.77320598G>A | GRCh38 |
| NC_000014.8:g.77786941G>A , CM000676.1:g.77786941G>A | GRCh37 |
| NC_000014.7:g.76856694G>A | NCBI36 |
| NG_008897.1:g.5285C>T , LRG_844:g.5285C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.84C>T | ENSP00000451967.2:p.Ala28= | |
| ENST00000682247.1:c.84C>T | ENSP00000507213.1:p.Ala28= | |
| ENST00000682382.1:c.32C>T | ||
| ENST00000682467.1:c.84C>T | ENSP00000508062.1:p.Ala28= | |
| ENST00000682795.1:c.84C>T | ENSP00000507574.1:p.Ala28= | |
| ENST00000684344.1:c.84C>T | ENSP00000507432.1:p.Ala28= | |
| ENST00000684534.1:n.107C>T | ||
| ENST00000261534.9:c.84C>T MANE Select | ENSP00000261534.4:p.Ala28= | |
| ENST00000261534.8:c.84C>T | ENSP00000261534.4:p.Ala28= | |
| ENST00000452340.7:n.107C>T | ||
| ENST00000556326.5:c.84C>T | ENSP00000450630.1:p.Ala28= | |
| NM_013382.5:c.84C>T , LRG_844t1:c.84C>T | NP_037514.2:p.Ala28= | |
| XM_011536675.1:c.84C>T | XP_011534977.1:p.Ala28= | |
| XM_011536676.1:c.-165C>T | XP_011534978.1:n.-165C>T | |
| XM_011536677.1:c.84C>T | XP_011534979.1:p.Ala28= | |
| XM_011536678.1:c.84C>T | XP_011534980.1:p.Ala28= | |
| XM_011536680.1:c.84C>T | XP_011534982.1:p.Ala28= | |
| XR_943416.1:n.287C>T | ||
| XM_011536675.2:c.84C>T | XP_011534977.1:p.Ala28= | |
| XM_011536676.2:c.-165C>T | XP_011534978.1:n.-165C>T | |
| XM_011536677.3:c.84C>T | XP_011534979.1:p.Ala28= | |
| XR_001750279.1:n.284C>T | ||
| XR_001750282.1:n.288C>T | ||
| XR_943416.3:n.285C>T | ||
| NM_013382.6:c.84C>T | NP_037514.2:p.Ala28= | |
| NM_013382.7:c.84C>T MANE Select | NP_037514.2:p.Ala28= |