Linked Data
ClinVar Variation Id:
351018
dbSNP Id:
rs6863775
gnomAD v2:
5-137203603-A-G
gnomAD v3:
5-137867914-A-G
gnomAD v4:
5-137867914-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137867914A>G , CM000667.2:g.137867914A>G | GRCh38 |
| NC_000005.9:g.137203603A>G , CM000667.1:g.137203603A>G | GRCh37 |
| NC_000005.8:g.137231502A>G | NCBI36 |
| NG_008894.1:g.5059A>G , LRG_201:g.5059A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239926.9:c.-251A>G (MYOT) MANE Select | ENSP00000239926.4:n.-251A>G | |
| ENST00000239926.8:c.-251A>G (MYOT) | ENSP00000239926.4:n.-251A>G | |
| ENST00000421631.6:c.-321A>G (MYOT) | ENSP00000391185.2:n.-321A>G | |
| ENST00000509812.5:n.55A>G (MYOT) | ||
| ENST00000511625.5:n.55A>G (MYOT) | ||
| ENST00000515645.1:c.-245A>G (MYOT) | ENSP00000426281.1:n.-245A>G | |
| NM_001135940.1:c.-321A>G (MYOT) | NP_001129412.1:n.-321A>G | |
| NM_001300911.1:c.-245A>G (MYOT) | NP_001287840.1:n.-245A>G | |
| NM_006790.2:c.-251A>G , LRG_201t1:c.-251A>G (MYOT) | NP_006781.1:n.-251A>G | |
| XR_948815.1:n.220-8651T>C (PKD2L2-DT) | ||
| XR_948816.1:n.58-8651T>C (PKD2L2-DT) | ||
| XM_017010060.1:c.-480A>G (MYOT) | XP_016865549.1:n.-480A>G | |
| XM_017010062.1:c.-349A>G (MYOT) | XP_016865551.1:n.-349A>G | |
| XR_948815.2:n.347-8651T>C (PKD2L2-DT) | ||
| NM_001135940.2:c.-321A>G (MYOT) | NP_001129412.1:n.-321A>G | |
| NM_001300911.2:c.-245A>G (MYOT) | NP_001287840.1:n.-245A>G | |
| NM_006790.3:c.-251A>G (MYOT) MANE Select | NP_006781.1:n.-251A>G |