Linked Data
ClinVar Variation Id:
351025
ClinVar RCV Id:
RCV000347504
RCV000386833
RCV000874867
RCV001557068
RCV000594719
RCV002523507
RCV003950243
dbSNP Id:
rs150293853
ExAC:
5:137213210 G / A
gnomAD v2:
5-137213210-G-A
gnomAD v3:
5-137877521-G-A
gnomAD v4:
5-137877521-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137877521G>A , CM000667.2:g.137877521G>A | GRCh38 |
| NC_000005.9:g.137213210G>A , CM000667.1:g.137213210G>A | GRCh37 |
| NC_000005.8:g.137241109G>A | NCBI36 |
| NG_008894.1:g.14666G>A , LRG_201:g.14666G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239926.9:c.533G>A (MYOT) MANE Select | ENSP00000239926.4:p.Arg178His | |
| ENST00000239926.8:c.533G>A (MYOT) | ENSP00000239926.4:p.Arg178His | |
| ENST00000421631.6:c.-20G>A (MYOT) | ENSP00000391185.2:n.-20G>A | |
| ENST00000509812.5:n.356G>A (MYOT) | ||
| ENST00000515645.1:c.188G>A (MYOT) | ENSP00000426281.1:p.Arg63His | |
| NM_001135940.1:c.-20G>A (MYOT) | NP_001129412.1:n.-20G>A | |
| NM_001300911.1:c.188G>A (MYOT) | NP_001287840.1:p.Arg63His | |
| NM_006790.2:c.533G>A , LRG_201t1:c.533G>A (MYOT) | NP_006781.1:p.Arg178His | |
| XR_948815.1:n.219+10639C>T (PKD2L2-DT) | ||
| XR_948816.1:n.57+11626C>T (PKD2L2-DT) | ||
| XM_017010060.1:c.-48G>A (MYOT) | XP_016865549.1:n.-48G>A | |
| XM_017010061.1:c.-48G>A (MYOT) | XP_016865550.1:n.-48G>A | |
| XM_017010062.1:c.-48G>A (MYOT) | XP_016865551.1:n.-48G>A | |
| XR_948815.2:n.346+10639C>T (PKD2L2-DT) | ||
| NM_001135940.2:c.-20G>A (MYOT) | NP_001129412.1:n.-20G>A | |
| NM_001300911.2:c.188G>A (MYOT) | NP_001287840.1:p.Arg63His | |
| NM_006790.3:c.533G>A (MYOT) MANE Select | NP_006781.1:p.Arg178His |