Linked Data
ClinVar Variation Id:
7953
dbSNP Id:
rs74315335
gnomAD v4:
1-171636430-T-C
ERepo:
CA119177/MONDO:0020367/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636430T>C , CM000663.2:g.171636430T>C | GRCh38 |
| NC_000001.10:g.171605570T>C , CM000663.1:g.171605570T>C | GRCh37 |
| NC_000001.9:g.169872193T>C | NCBI36 |
| NG_008859.1:g.21204A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000037502.11:c.1010A>G (MYOC) MANE Select | ENSP00000037502.5:p.Gln337Arg | |
| ENST00000637303.1:c.235-2200T>C (MYOCOS) | ENSP00000490048.1:n.235-2200T>C | |
| ENST00000638471.1:c.*348A>G (MYOC) | ENSP00000491206.1:n.*348A>G | |
| ENST00000037502.10:c.1010A>G (MYOC) | ENSP00000037502.5:p.Gln337Arg | |
| ENST00000614688.1:c.1009A>G (MYOC) | ENSP00000478680.1:p.Arg337Gly | |
| NM_000261.1:c.1010A>G (MYOC) | NP_000252.1:p.Gln337Arg | |
| NM_000261.2:c.1010A>G (MYOC) MANE Select | NP_000252.1:p.Gln337Arg |