Linked Data
ClinVar Variation Id:
317020
ClinVar RCV Id:
RCV000312701
RCV000365213
RCV000594181
RCV000891564
RCV001275382
RCV001121908
RCV003888734
dbSNP Id:
rs184906734
ExAC:
15:72105881 G / A
gnomAD v2:
15-72105881-G-A
gnomAD v3:
15-71813541-G-A
gnomAD v4:
15-71813541-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71813541G>A , CM000677.2:g.71813541G>A | GRCh38 |
| NC_000015.9:g.72105881G>A , CM000677.1:g.72105881G>A | GRCh37 |
| NC_000015.8:g.69892935G>A | NCBI36 |
| NG_009113.2:g.7987G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.900G>A MANE Select | ENSP00000482504.1:p.Thr300= | |
| ENST00000617575.4:c.900G>A | ENSP00000482504.1:p.Thr300= | |
| ENST00000621098.1:c.900G>A | ENSP00000479962.1:p.Thr300= | |
| ENST00000621736.4:c.636G>A | ENSP00000479254.1:p.Thr212= | |
| NM_014249.3:c.900G>A | NP_055064.1:p.Thr300= | |
| NM_016346.3:c.900G>A | NP_057430.1:p.Thr300= | |
| XM_011521146.1:c.636G>A | XP_011519448.1:p.Thr212= | |
| NM_014249.4:c.900G>A MANE Select | NP_055064.1:p.Thr300= | |
| NM_016346.4:c.900G>A | NP_057430.1:p.Thr300= |