Linked Data
ClinVar Variation Id:
351028
dbSNP Id:
rs886059968
gnomAD v3:
5-137886895-T-C
gnomAD v4:
5-137886895-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137886895T>C , CM000667.2:g.137886895T>C | GRCh38 |
| NC_000005.9:g.137222584T>C , CM000667.1:g.137222584T>C | GRCh37 |
| NC_000005.8:g.137250483T>C | NCBI36 |
| NG_008894.1:g.24040T>C , LRG_201:g.24040T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239926.9:c.1222T>C (MYOT) MANE Select | ENSP00000239926.4:p.Leu408= | |
| ENST00000239926.8:c.1222T>C (MYOT) | ENSP00000239926.4:p.Leu408= | |
| ENST00000421631.6:c.670T>C (MYOT) | ENSP00000391185.2:p.Leu224= | |
| ENST00000508938.1:n.196T>C (MYOT) | ||
| ENST00000515645.1:c.877T>C (MYOT) | ENSP00000426281.1:p.Leu293= | |
| NM_001135940.1:c.670T>C (MYOT) | NP_001129412.1:p.Leu224= | |
| NM_001300911.1:c.877T>C (MYOT) | NP_001287840.1:p.Leu293= | |
| NM_006790.2:c.1222T>C , LRG_201t1:c.1222T>C (MYOT) | NP_006781.1:p.Leu408= | |
| XR_948815.1:n.219+1265A>G (PKD2L2-DT) | ||
| XR_948816.1:n.57+2252A>G (PKD2L2-DT) | ||
| XM_017010060.1:c.637T>C (MYOT) | XP_016865549.1:p.Leu213= | |
| XM_017010061.1:c.637T>C (MYOT) | XP_016865550.1:p.Leu213= | |
| XM_017010062.1:c.637T>C (MYOT) | XP_016865551.1:p.Leu213= | |
| XR_948815.2:n.346+1265A>G (PKD2L2-DT) | ||
| NM_001135940.2:c.670T>C (MYOT) | NP_001129412.1:p.Leu224= | |
| NM_001300911.2:c.877T>C (MYOT) | NP_001287840.1:p.Leu293= | |
| NM_006790.3:c.1222T>C (MYOT) MANE Select | NP_006781.1:p.Leu408= |