Linked Data
ClinVar Variation Id:
431952
dbSNP Id:
rs778429780
ExAC:
15:89864981 C / T
gnomAD v2:
15-89864981-C-T
gnomAD v4:
15-89321750-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89321750C>T , CM000677.2:g.89321750C>T | GRCh38 |
| NC_000015.9:g.89864981C>T , CM000677.1:g.89864981C>T | GRCh37 |
| NC_000015.8:g.87665985C>T | NCBI36 |
| NG_008218.1:g.18046G>A | |
| NG_008218.2:g.18046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2584G>A | ENSP00000516154.1:p.Ala862Thr | |
| ENST00000268124.11:c.2584G>A MANE Select | ENSP00000268124.5:p.Ala862Thr | |
| ENST00000530292.3:c.2185G>A | ENSP00000432885.2:p.Ala729Thr | |
| ENST00000635986.2:c.2584G>A | ENSP00000490653.2:p.Ala862Thr | |
| ENST00000636774.1:c.*1151G>A | ENSP00000489799.1:n.*1151G>A | |
| ENST00000637238.1:c.1281G>A | ENSP00000490756.1:n.1281G>A | |
| ENST00000637264.1:c.1656G>A | ||
| ENST00000666746.1:c.2161G>A | ||
| ENST00000670281.1:c.800+212G>A | ENSP00000499709.1:n.800+212G>A | |
| ENST00000672071.1:n.2782G>A | ||
| ENST00000672923.2:n.2526G>A | ||
| ENST00000268124.9:c.2584G>A | ENSP00000268124.5:p.Ala862Thr | |
| ENST00000442287.6:c.2584G>A | ENSP00000399851.2:p.Ala862Thr | |
| ENST00000528881.2:c.196-490G>A | ||
| ENST00000530715.5:c.186-881G>A | ENSP00000431395.1:n.186-881G>A | |
| ENST00000631044.2:c.*2008G>A | ENSP00000486730.1:n.*2008G>A | |
| NM_001126131.1:c.2584G>A | NP_001119603.1:p.Ala862Thr | |
| NM_002693.2:c.2584G>A | NP_002684.1:p.Ala862Thr | |
| NM_001126131.2:c.2584G>A | NP_001119603.1:p.Ala862Thr | |
| NM_002693.3:c.2584G>A MANE Select | NP_002684.1:p.Ala862Thr |