MyVariant.info:
GRCh38
chr5:g.137870871C>G
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137870871C>G , CM000667.2:g.137870871C>G | GRCh38 |
| NG_008894.1:g.8016C>G , LRG_201:g.8016C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239926.9:c.220C>G (MYOT) MANE Select | ENSP00000239926.4:p.Gln74Glu | |
| ENST00000239926.8:c.220C>G (MYOT) | ENSP00000239926.4:p.Gln74Glu | |
| ENST00000421631.6:c.-197+346C>G (MYOT) | ENSP00000391185.2:n.-197+346C>G | |
| ENST00000509812.5:n.179+346C>G (MYOT) | ||
| ENST00000511625.5:n.179+346C>G (MYOT) | ||
| ENST00000515645.1:c.-120-6C>G (MYOT) | ENSP00000426281.1:n.-120-6C>G | |
| NM_001135940.1:c.-197+346C>G (MYOT) | NP_001129412.1:n.-197+346C>G | |
| NM_001300911.1:c.-120-6C>G (MYOT) | NP_001287840.1:n.-120-6C>G | |
| NM_006790.2:c.220C>G , LRG_201t1:c.220C>G (MYOT) | NP_006781.1:p.Gln74Glu | |
| XR_948815.1:n.220-11608G>C (PKD2L2-DT) | ||
| XR_948816.1:n.58-11608G>C (PKD2L2-DT) | ||
| XM_017010060.1:c.-355-6C>G (MYOT) | XP_016865549.1:n.-355-6C>G | |
| XM_017010061.1:c.-361C>G (MYOT) | XP_016865550.1:n.-361C>G | |
| XM_017010062.1:c.-225+346C>G (MYOT) | XP_016865551.1:n.-225+346C>G | |
| XR_948815.2:n.347-11608G>C (PKD2L2-DT) | ||
| NM_001135940.2:c.-197+346C>G (MYOT) | NP_001129412.1:n.-197+346C>G | |
| NM_001300911.2:c.-120-6C>G (MYOT) | NP_001287840.1:n.-120-6C>G | |
| NM_006790.3:c.220C>G (MYOT) MANE Select | NP_006781.1:p.Gln74Glu |