Linked Data
ClinVar Variation Id:
321658
ClinVar RCV Id:
RCV000313692
dbSNP Id:
rs201919885
ExAC:
17:10323551 G / A
gnomAD v2:
17-10323551-G-A
gnomAD v3:
17-10420234-G-A
gnomAD v4:
17-10420234-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10420234G>A , CM000679.2:g.10420234G>A | GRCh38 |
| NC_000017.10:g.10323551G>A , CM000679.1:g.10323551G>A | GRCh37 |
| NC_000017.9:g.10264276G>A | NCBI36 |
| NG_013015.1:g.6717C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403437.2:c.-7C>T (MYH8) MANE Select | ENSP00000384330.2:n.-7C>T | |
| NM_002472.2:c.-7C>T (MYH8) | NP_002463.2:n.-7C>T | |
| NR_125367.1:n.167+13996G>A (MYHAS) | ||
| XM_011523873.1:c.-7C>T (MYH8) | XP_011522175.1:n.-7C>T | |
| XM_011523874.1:c.-7C>T (MYH8) | XP_011522176.1:n.-7C>T | |
| NM_002472.3:c.-7C>T (MYH8) MANE Select | NP_002463.2:n.-7C>T |