Linked Data
dbSNP Id:
rs765459916
ExAC:
17:10312475 C / T
gnomAD v2:
17-10312475-C-T
gnomAD v4:
17-10409158-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10409158C>T , CM000679.2:g.10409158C>T | GRCh38 |
| NC_000017.10:g.10312475C>T , CM000679.1:g.10312475C>T | GRCh37 |
| NC_000017.9:g.10253200C>T | NCBI36 |
| NG_013015.1:g.17793G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403437.2:c.1904G>A (MYH8) MANE Select | ENSP00000384330.2:p.Ser635Asn | |
| NM_002472.2:c.1904G>A (MYH8) | NP_002463.2:p.Ser635Asn | |
| NR_125367.1:n.167+2920C>T (MYHAS) | ||
| XM_011523873.1:c.1904G>A (MYH8) | XP_011522175.1:p.Ser635Asn | |
| XM_011523874.1:c.1904G>A (MYH8) | XP_011522176.1:p.Ser635Asn | |
| NM_002472.3:c.1904G>A (MYH8) MANE Select | NP_002463.2:p.Ser635Asn |