Linked Data
dbSNP Id:
rs35952774
ExAC:
17:10307655 C / T
gnomAD v2:
17-10307655-C-T
gnomAD v3:
17-10404338-C-T
gnomAD v4:
17-10404338-C-T
COSMIC:
COSM2924761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10404338C>T , CM000679.2:g.10404338C>T | GRCh38 |
| NC_000017.10:g.10307655C>T , CM000679.1:g.10307655C>T | GRCh37 |
| NC_000017.9:g.10248380C>T | NCBI36 |
| NG_013015.1:g.22613G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403437.2:c.2680G>A (MYH8) MANE Select | ENSP00000384330.2:p.Val894Ile | |
| NM_002472.2:c.2680G>A (MYH8) | NP_002463.2:p.Val894Ile | |
| NR_125367.1:n.77-1810C>T (MYHAS) | ||
| XM_011523873.1:c.2776G>A (MYH8) | XP_011522175.1:p.Val926Ile | |
| XM_011523874.1:c.2776G>A (MYH8) | XP_011522176.1:p.Val926Ile | |
| NM_002472.3:c.2680G>A (MYH8) MANE Select | NP_002463.2:p.Val894Ile |