Linked Data
ClinVar Variation Id:
890952
dbSNP Id:
rs145692547
ExAC:
17:61555391 C / T
gnomAD v2:
17-61555391-C-T
gnomAD v3:
17-63478030-C-T
gnomAD v4:
17-63478030-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63478030C>T , CM000679.2:g.63478030C>T | GRCh38 |
| NC_000017.10:g.61555391C>T , CM000679.1:g.61555391C>T | GRCh37 |
| NC_000017.9:g.58909123C>T | NCBI36 |
| NG_011648.1:g.5958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.349C>T MANE Select | ENSP00000290866.4:p.Leu117= | |
| ENST00000290866.9:c.349C>T | ENSP00000290866.4:p.Leu117= | |
| ENST00000428043.5:c.349C>T | ENSP00000397593.2:p.Leu117= | |
| ENST00000579462.1:n.374C>T | ||
| ENST00000580318.1:n.538C>T | ||
| ENST00000582627.1:c.349C>T | ENSP00000462280.1:p.Leu117= | |
| ENST00000582678.5:c.349C>T | ENSP00000462995.1:p.Leu117= | |
| ENST00000583336.5:n.383C>T | ||
| ENST00000584529.5:n.383C>T | ||
| NM_000789.3:c.349C>T | NP_000780.1:p.Leu117= | |
| XM_005257110.1:c.-107C>T | XP_005257167.1:n.-107C>T | |
| NM_000789.4:c.349C>T MANE Select | NP_000780.1:p.Leu117= | |
| NM_001382700.1:c.114C>T | NP_001369629.1:p.Ser38= | |
| NM_001382701.1:c.-266C>T | NP_001369630.1:n.-266C>T |