Linked Data
ClinVar Variation Id:
1169108
dbSNP Id:
rs140385822
ExAC:
16:67470505 G / A
gnomAD v2:
16-67470505-G-A
gnomAD v3:
16-67436602-G-A
gnomAD v4:
16-67436602-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436602G>A , CM000678.2:g.67436602G>A | GRCh38 |
| NC_000016.9:g.67470505G>A , CM000678.1:g.67470505G>A | GRCh37 |
| NC_000016.8:g.66028006G>A | NCBI36 |
| NG_011482.1:g.49585C>T | |
| NG_016549.1:g.10470G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326152.6:c.817G>A MANE Select | ENSP00000316786.5:p.Val273Met | |
| ENST00000326152.5:c.817G>A | ENSP00000316786.5:p.Val273Met | |
| NM_000196.3:c.817G>A | NP_000187.3:p.Val273Met | |
| NM_000196.4:c.817G>A MANE Select | NP_000187.3:p.Val273Met |