Linked Data
ClinVar Variation Id:
351026
dbSNP Id:
rs377759571
ExAC:
5:137219062 T / C
gnomAD v2:
5-137219062-T-C
gnomAD v3:
5-137883373-T-C
gnomAD v4:
5-137883373-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137883373T>C , CM000667.2:g.137883373T>C | GRCh38 |
| NC_000005.9:g.137219062T>C , CM000667.1:g.137219062T>C | GRCh37 |
| NC_000005.8:g.137246961T>C | NCBI36 |
| NG_008894.1:g.20518T>C , LRG_201:g.20518T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239926.9:c.817-11T>C (MYOT) MANE Select | ENSP00000239926.4:n.817-11T>C | |
| ENST00000239926.8:c.817-11T>C (MYOT) | ENSP00000239926.4:n.817-11T>C | |
| ENST00000421631.6:c.265-11T>C (MYOT) | ENSP00000391185.2:n.265-11T>C | |
| ENST00000503748.1:n.382-11T>C (MYOT) | ||
| ENST00000509812.5:n.506+2508T>C (MYOT) | ||
| ENST00000511254.1:n.252-11T>C (MYOT) | ||
| ENST00000515645.1:c.472-11T>C (MYOT) | ENSP00000426281.1:n.472-11T>C | |
| NM_001135940.1:c.265-11T>C (MYOT) | NP_001129412.1:n.265-11T>C | |
| NM_001300911.1:c.472-11T>C (MYOT) | NP_001287840.1:n.472-11T>C | |
| NM_006790.2:c.817-11T>C , LRG_201t1:c.817-11T>C (MYOT) | NP_006781.1:n.817-11T>C | |
| XR_948815.1:n.219+4787A>G (PKD2L2-DT) | ||
| XR_948816.1:n.57+5774A>G (PKD2L2-DT) | ||
| XM_017010060.1:c.232-11T>C (MYOT) | XP_016865549.1:n.232-11T>C | |
| XM_017010061.1:c.232-11T>C (MYOT) | XP_016865550.1:n.232-11T>C | |
| XM_017010062.1:c.232-11T>C (MYOT) | XP_016865551.1:n.232-11T>C | |
| XR_948815.2:n.346+4787A>G (PKD2L2-DT) | ||
| NM_001135940.2:c.265-11T>C (MYOT) | NP_001129412.1:n.265-11T>C | |
| NM_001300911.2:c.472-11T>C (MYOT) | NP_001287840.1:n.472-11T>C | |
| NM_006790.3:c.817-11T>C (MYOT) MANE Select | NP_006781.1:n.817-11T>C |