Linked Data
dbSNP Id:
rs781612219
ExAC:
2:220011407 T / A
gnomAD v2:
2-220011407-T-A
gnomAD v3:
2-219146685-T-A
gnomAD v4:
2-219146685-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219146685T>A , CM000664.2:g.219146685T>A | GRCh38 |
| NC_000002.11:g.220011407T>A , CM000664.1:g.220011407T>A | GRCh37 |
| NC_000002.10:g.219719651T>A | NCBI36 |
| NG_007880.1:g.19181A>T , LRG_90:g.19181A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426304.6:c.583A>T | ENSP00000394896.2:p.Ile195Leu | |
| ENST00000457600.3:c.583A>T | ENSP00000407201.2:p.Ile195Leu | |
| ENST00000698174.1:c.583A>T | ENSP00000513594.1:p.Ile195Leu | |
| ENST00000698175.1:c.*330A>T | ENSP00000513595.1:n.*330A>T | |
| ENST00000698176.1:n.655A>T | ||
| ENST00000698202.1:c.583A>T | ENSP00000513605.1:p.Ile195Leu | |
| ENST00000698203.1:c.583A>T | ENSP00000513606.1:p.Ile195Leu | |
| ENST00000356853.10:c.583A>T MANE Select | ENSP00000349313.5:p.Ile195Leu | |
| ENST00000318673.6:c.*1705A>T | ENSP00000320919.3:n.*1705A>T | |
| ENST00000356853.9:c.583A>T | ENSP00000349313.5:p.Ile195Leu | |
| ENST00000409720.5:c.583A>T | ENSP00000387290.1:p.Ile195Leu | |
| ENST00000418099.5:c.583A>T | ENSP00000408966.1:p.Ile195Leu | |
| ENST00000426304.5:c.343A>T | ENSP00000394896.1:p.Ile115Leu | |
| ENST00000457600.2:c.583A>T | ENSP00000407201.1:p.Ile195Leu | |
| ENST00000498327.5:n.2771A>T | ||
| NM_024782.2:c.583A>T , LRG_90t1:c.583A>T | NP_079058.1:p.Ile195Leu | |
| NM_001377498.1:c.583A>T | NP_001364427.1:p.Ile195Leu | |
| NM_001377499.1:c.583A>T | NP_001364428.1:p.Ile195Leu | |
| NM_024782.3:c.583A>T MANE Select | NP_079058.1:p.Ile195Leu | |
| NR_165304.1:n.679A>T |