Linked Data
ClinVar Variation Id:
255475
ClinVar RCV Id:
RCV000248393
RCV000989741
RCV001517915
RCV001651111
RCV001701716
RCV001702377
RCV001702378
dbSNP Id:
rs8069344
ExAC:
17:7917279 T / A
gnomAD v2:
17-7917279-T-A
gnomAD v3:
17-8013961-T-A
gnomAD v4:
17-8013961-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8013961T>A , CM000679.2:g.8013961T>A | GRCh38 |
| NC_000017.10:g.7917279T>A , CM000679.1:g.7917279T>A | GRCh37 |
| NC_000017.9:g.7858004T>A | NCBI36 |
| NG_009092.1:g.16292T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254854.5:c.2345T>A MANE Select | ENSP00000254854.4:p.Leu782His | |
| ENST00000254854.4:c.2345T>A | ENSP00000254854.4:p.Leu782His | |
| NM_000180.3:c.2345T>A | NP_000171.1:p.Leu782His | |
| XM_011523816.1:c.2345T>A | XP_011522118.1:p.Leu782His | |
| NM_000180.4:c.2345T>A MANE Select | NP_000171.1:p.Leu782His |