Linked Data
ClinVar Variation Id:
351023
dbSNP Id:
rs114194130
ExAC:
5:137206683 G / T
gnomAD v2:
5-137206683-G-T
gnomAD v3:
5-137870994-G-T
gnomAD v4:
5-137870994-G-T
COSMIC:
COSM735597
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137870994G>T , CM000667.2:g.137870994G>T | GRCh38 |
| NC_000005.9:g.137206683G>T , CM000667.1:g.137206683G>T | GRCh37 |
| NC_000005.8:g.137234582G>T | NCBI36 |
| NG_008894.1:g.8139G>T , LRG_201:g.8139G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239926.9:c.343G>T (MYOT) MANE Select | ENSP00000239926.4:p.Ala115Ser | |
| ENST00000239926.8:c.343G>T (MYOT) | ENSP00000239926.4:p.Ala115Ser | |
| ENST00000421631.6:c.-197+469G>T (MYOT) | ENSP00000391185.2:n.-197+469G>T | |
| ENST00000509812.5:n.179+469G>T (MYOT) | ||
| ENST00000511625.5:n.179+469G>T (MYOT) | ||
| ENST00000515645.1:c.-3G>T (MYOT) | ENSP00000426281.1:n.-3G>T | |
| NM_001135940.1:c.-197+469G>T (MYOT) | NP_001129412.1:n.-197+469G>T | |
| NM_001300911.1:c.-3G>T (MYOT) | NP_001287840.1:n.-3G>T | |
| NM_006790.2:c.343G>T , LRG_201t1:c.343G>T (MYOT) | NP_006781.1:p.Ala115Ser | |
| XR_948815.1:n.220-11731C>A (PKD2L2-DT) | ||
| XR_948816.1:n.58-11731C>A (PKD2L2-DT) | ||
| XM_017010060.1:c.-238G>T (MYOT) | XP_016865549.1:n.-238G>T | |
| XM_017010061.1:c.-238G>T (MYOT) | XP_016865550.1:n.-238G>T | |
| XM_017010062.1:c.-225+469G>T (MYOT) | XP_016865551.1:n.-225+469G>T | |
| XR_948815.2:n.347-11731C>A (PKD2L2-DT) | ||
| NM_001135940.2:c.-197+469G>T (MYOT) | NP_001129412.1:n.-197+469G>T | |
| NM_001300911.2:c.-3G>T (MYOT) | NP_001287840.1:n.-3G>T | |
| NM_006790.3:c.343G>T (MYOT) MANE Select | NP_006781.1:p.Ala115Ser |