Linked Data
ClinVar Variation Id:
2570630
ClinVar RCV Id:
RCV003307390
dbSNP Id:
rs201206951
ExAC:
1:171605579 A / G
gnomAD v2:
1-171605579-A-G
gnomAD v3:
1-171636439-A-G
gnomAD v4:
1-171636439-A-G
ERepo:
CA1244099/MONDO:0020367/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636439A>G , CM000663.2:g.171636439A>G | GRCh38 |
| NC_000001.10:g.171605579A>G , CM000663.1:g.171605579A>G | GRCh37 |
| NC_000001.9:g.169872202A>G | NCBI36 |
| NG_008859.1:g.21195T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1001T>C (MYOC) MANE Select | ENSP00000037502.5:p.Leu334Pro | |
| ENST00000637303.1:c.235-2191A>G (MYOCOS) | ENSP00000490048.1:n.235-2191A>G | |
| ENST00000638471.1:c.*339T>C (MYOC) | ENSP00000491206.1:n.*339T>C | |
| ENST00000037502.10:c.1001T>C (MYOC) | ENSP00000037502.5:p.Leu334Pro | |
| ENST00000614688.1:c.1001T>C (MYOC) | ENSP00000478680.1:p.Leu334Pro | |
| NM_000261.1:c.1001T>C (MYOC) | NP_000252.1:p.Leu334Pro | |
| NM_000261.2:c.1001T>C (MYOC) MANE Select | NP_000252.1:p.Leu334Pro |