Linked Data
ClinVar Variation Id:
500743
dbSNP Id:
rs147891371
gnomAD v2:
5-137222679-C-T
gnomAD v3:
5-137886990-C-T
gnomAD v4:
5-137886990-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137886990C>T , CM000667.2:g.137886990C>T | GRCh38 |
| NC_000005.9:g.137222679C>T , CM000667.1:g.137222679C>T | GRCh37 |
| NC_000005.8:g.137250578C>T | NCBI36 |
| NG_008894.1:g.24135C>T , LRG_201:g.24135C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239926.9:c.1317C>T (MYOT) MANE Select | ENSP00000239926.4:p.Asp439= | |
| ENST00000239926.8:c.1317C>T (MYOT) | ENSP00000239926.4:p.Asp439= | |
| ENST00000421631.6:c.765C>T (MYOT) | ENSP00000391185.2:p.Asp255= | |
| ENST00000508938.1:n.291C>T (MYOT) | ||
| ENST00000515645.1:c.972C>T (MYOT) | ENSP00000426281.1:p.Asp324= | |
| NM_001135940.1:c.765C>T (MYOT) | NP_001129412.1:p.Asp255= | |
| NM_001300911.1:c.972C>T (MYOT) | NP_001287840.1:p.Asp324= | |
| NM_006790.2:c.1317C>T , LRG_201t1:c.1317C>T (MYOT) | NP_006781.1:p.Asp439= | |
| XR_948815.1:n.219+1170G>A (PKD2L2-DT) | ||
| XR_948816.1:n.57+2157G>A (PKD2L2-DT) | ||
| XM_017010060.1:c.732C>T (MYOT) | XP_016865549.1:p.Asp244= | |
| XM_017010061.1:c.732C>T (MYOT) | XP_016865550.1:p.Asp244= | |
| XM_017010062.1:c.732C>T (MYOT) | XP_016865551.1:p.Asp244= | |
| XR_948815.2:n.346+1170G>A (PKD2L2-DT) | ||
| NM_001135940.2:c.765C>T (MYOT) | NP_001129412.1:p.Asp255= | |
| NM_001300911.2:c.972C>T (MYOT) | NP_001287840.1:p.Asp324= | |
| NM_006790.3:c.1317C>T (MYOT) MANE Select | NP_006781.1:p.Asp439= |