Linked Data
ClinVar Variation Id:
225416
ClinVar RCV Id:
RCV000490328
dbSNP Id:
rs150008607
ExAC:
17:10302192 G / A
gnomAD v2:
17-10302192-G-A
gnomAD v3:
17-10398875-G-A
gnomAD v4:
17-10398875-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10398875G>A , CM000679.2:g.10398875G>A | GRCh38 |
| NC_000017.10:g.10302192G>A , CM000679.1:g.10302192G>A | GRCh37 |
| NC_000017.9:g.10242917G>A | NCBI36 |
| NG_013015.1:g.28076C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403437.2:c.3874C>T (MYH8) MANE Select | ENSP00000384330.2:p.Arg1292Ter | |
| NM_002472.2:c.3874C>T (MYH8) | NP_002463.2:p.Arg1292Ter | |
| NR_125367.1:n.77-7273G>A (MYHAS) | ||
| XM_011523873.1:c.3970C>T (MYH8) | XP_011522175.1:p.Arg1324Ter | |
| XM_011523874.1:c.3970C>T (MYH8) | XP_011522176.1:p.Arg1324Ter | |
| NM_002472.3:c.3874C>T (MYH8) MANE Select | NP_002463.2:p.Arg1292Ter |