Linked Data
dbSNP Id:
rs963929660
gnomAD v2:
1-171605502-T-G
gnomAD v3:
1-171636362-T-G
gnomAD v4:
1-171636362-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636362T>G , CM000663.2:g.171636362T>G | GRCh38 |
| NC_000001.10:g.171605502T>G , CM000663.1:g.171605502T>G | GRCh37 |
| NC_000001.9:g.169872125T>G | NCBI36 |
| NG_008859.1:g.21272A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1078A>C (MYOC) MANE Select | ENSP00000037502.5:p.Ile360Leu | |
| ENST00000637303.1:c.235-2268T>G (MYOCOS) | ENSP00000490048.1:n.235-2268T>G | |
| ENST00000638471.1:c.*416A>C (MYOC) | ENSP00000491206.1:n.*416A>C | |
| ENST00000037502.10:c.1078A>C (MYOC) | ENSP00000037502.5:p.Ile360Leu | |
| ENST00000614688.1:c.*42A>C (MYOC) | ENSP00000478680.1:n.*42A>C | |
| NM_000261.1:c.1078A>C (MYOC) | NP_000252.1:p.Ile360Leu | |
| NM_000261.2:c.1078A>C (MYOC) MANE Select | NP_000252.1:p.Ile360Leu |