Linked Data
ClinVar Variation Id:
206583
ClinVar RCV Id:
RCV000188643
RCV000396333
RCV000231645
RCV000616176
RCV001004406
RCV001847834
RCV002514036
RCV002226693
RCV003235111
dbSNP Id:
rs138929605
ExAC:
15:89873337 T / A
gnomAD v2:
15-89873337-T-A
gnomAD v3:
15-89330106-T-A
gnomAD v4:
15-89330106-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89330106T>A , CM000677.2:g.89330106T>A | GRCh38 |
| NC_000015.9:g.89873337T>A , CM000677.1:g.89873337T>A | GRCh37 |
| NC_000015.8:g.87674341T>A | NCBI36 |
| NG_008218.1:g.9690A>T | |
| NG_008218.2:g.9690A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.830A>T | ENSP00000516154.1:p.His277Leu | |
| ENST00000268124.11:c.830A>T MANE Select | ENSP00000268124.5:p.His277Leu | |
| ENST00000530292.3:c.431A>T | ENSP00000432885.2:p.His144Leu | |
| ENST00000635986.2:c.830A>T | ENSP00000490653.2:p.His277Leu | |
| ENST00000636774.1:c.830A>T | ENSP00000489799.1:p.His277Leu | |
| ENST00000666746.1:c.487A>T | ||
| ENST00000672071.1:n.1028A>T | ||
| ENST00000268124.9:c.830A>T | ENSP00000268124.5:p.His277Leu | |
| ENST00000442287.6:c.830A>T | ENSP00000399851.2:p.His277Leu | |
| ENST00000631044.2:c.*213A>T | ENSP00000486730.1:n.*213A>T | |
| NM_001126131.1:c.830A>T | NP_001119603.1:p.His277Leu | |
| NM_002693.2:c.830A>T | NP_002684.1:p.His277Leu | |
| NM_001126131.2:c.830A>T | NP_001119603.1:p.His277Leu | |
| NM_002693.3:c.830A>T MANE Select | NP_002684.1:p.His277Leu |