Linked Data
ClinVar Variation Id:
68842
dbSNP Id:
rs139007744
ExAC:
10:122666300 T / G
gnomAD v2:
10-122666300-T-G
gnomAD v3:
10-120906788-T-G
gnomAD v4:
10-120906788-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.120906788T>G , CM000672.2:g.120906788T>G | GRCh38 |
| NC_000010.10:g.122666300T>G , CM000672.1:g.122666300T>G | GRCh37 |
| NC_000010.9:g.122656290T>G | NCBI36 |
| NG_023290.1:g.60614T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263461.11:c.3450T>G MANE Select | ENSP00000263461.5:p.Phe1150Leu | |
| ENST00000263461.10:c.3450T>G | ENSP00000263461.5:p.Phe1150Leu | |
| ENST00000497136.6:c.*2723T>G | ENSP00000474595.1:n.*2723T>G | |
| ENST00000604509.5:n.3879T>G | ||
| ENST00000605543.5:c.*1969T>G | ENSP00000475076.1:n.*1969T>G | |
| NM_018117.11:c.3450T>G | NP_060587.8:p.Phe1150Leu | |
| XM_005269962.1:c.2673T>G | XP_005270019.1:p.Phe891Leu | |
| XM_005269963.1:c.2673T>G | XP_005270020.1:p.Phe891Leu | |
| XM_005269964.1:c.2037T>G | XP_005270021.1:p.Phe679Leu | |
| XR_428707.1:n.3441T>G | ||
| XR_946372.1:n.253-4446A>C | ||
| XM_005269963.2:c.2673T>G | XP_005270020.1:p.Phe891Leu | |
| XM_017016397.1:c.3276T>G | XP_016871886.1:p.Phe1092Leu | |
| XM_017016398.1:c.2673T>G | XP_016871887.1:p.Phe891Leu | |
| XM_017016399.1:c.2163T>G | XP_016871888.1:p.Phe721Leu | |
| XM_024448075.1:c.2037T>G | XP_024303843.1:p.Phe679Leu | |
| XR_001747136.2:n.3359T>G | ||
| XR_001747137.2:n.3213T>G | ||
| XR_001747609.1:n.541-4446A>C | ||
| XR_428707.3:n.3385T>G | ||
| XR_946372.2:n.1156-4446A>C | ||
| NM_018117.12:c.3450T>G MANE Select | NP_060587.8:p.Phe1150Leu |