Linked Data
dbSNP Id:
rs761755712
ExAC:
1:171605713 G / T
gnomAD v2:
1-171605713-G-T
gnomAD v4:
1-171636573-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636573G>T , CM000663.2:g.171636573G>T | GRCh38 |
| NC_000001.10:g.171605713G>T , CM000663.1:g.171605713G>T | GRCh37 |
| NC_000001.9:g.169872336G>T | NCBI36 |
| NG_008859.1:g.21061C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.867C>A (MYOC) MANE Select | ENSP00000037502.5:p.Asp289Glu | |
| ENST00000637303.1:c.235-2057G>T (MYOCOS) | ENSP00000490048.1:n.235-2057G>T | |
| ENST00000638471.1:c.*205C>A (MYOC) | ENSP00000491206.1:n.*205C>A | |
| ENST00000037502.10:c.867C>A (MYOC) | ENSP00000037502.5:p.Asp289Glu | |
| ENST00000614688.1:c.867C>A (MYOC) | ENSP00000478680.1:p.Asp289Glu | |
| NM_000261.1:c.867C>A (MYOC) | NP_000252.1:p.Asp289Glu | |
| NM_000261.2:c.867C>A (MYOC) MANE Select | NP_000252.1:p.Asp289Glu |