Linked Data
ClinVar Variation Id:
129671
dbSNP Id:
rs34693726
ExAC:
17:10312472 G / A
gnomAD v2:
17-10312472-G-A
gnomAD v3:
17-10409155-G-A
gnomAD v4:
17-10409155-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10409155G>A , CM000679.2:g.10409155G>A | GRCh38 |
| NC_000017.10:g.10312472G>A , CM000679.1:g.10312472G>A | GRCh37 |
| NC_000017.9:g.10253197G>A | NCBI36 |
| NG_013015.1:g.17796C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403437.2:c.1907C>T (MYH8) MANE Select | ENSP00000384330.2:p.Ala636Val | |
| NM_002472.2:c.1907C>T (MYH8) | NP_002463.2:p.Ala636Val | |
| NR_125367.1:n.167+2917G>A (MYHAS) | ||
| XM_011523873.1:c.1907C>T (MYH8) | XP_011522175.1:p.Ala636Val | |
| XM_011523874.1:c.1907C>T (MYH8) | XP_011522176.1:p.Ala636Val | |
| NM_002472.3:c.1907C>T (MYH8) MANE Select | NP_002463.2:p.Ala636Val |