Linked Data
ClinVar Variation Id:
904664
ClinVar RCV Id:
RCV001152706
dbSNP Id:
rs200736287
ExAC:
4:74272456 C / T
gnomAD v2:
4-74272456-C-T
gnomAD v3:
4-73406739-C-T
gnomAD v4:
4-73406739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73406739C>T , CM000666.2:g.73406739C>T | GRCh38 |
| NC_000004.11:g.74272456C>T , CM000666.1:g.74272456C>T | GRCh37 |
| NC_000004.10:g.74491320C>T | NCBI36 |
| NG_009291.1:g.7485C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.248C>T MANE Select | ENSP00000295897.4:p.Ala83Val | |
| ENST00000295897.8:c.248C>T | ENSP00000295897.4:p.Ala83Val | |
| ENST00000401494.7:c.137+1566C>T | ENSP00000384695.3:n.137+1566C>T | |
| ENST00000415165.6:c.137+1566C>T | ENSP00000401820.2:n.137+1566C>T | |
| ENST00000441319.5:c.254C>T | ENSP00000392541.1:p.Ala85Val | |
| ENST00000476441.6:c.79+2333C>T | ENSP00000423727.1:n.79+2333C>T | |
| ENST00000503124.5:c.10C>T | ENSP00000421027.1:p.Leu4= | |
| ENST00000509063.5:c.248C>T | ENSP00000422784.1:p.Ala83Val | |
| ENST00000510166.5:n.284C>T | ||
| ENST00000514786.1:n.217C>T | ||
| ENST00000515133.5:n.289C>T | ||
| ENST00000621085.4:c.248C>T | ENSP00000483421.1:p.Ala83Val | |
| ENST00000621628.4:c.248C>T | ENSP00000480485.1:p.Ala83Val | |
| NM_000477.5:c.248C>T | NP_000468.1:p.Ala83Val | |
| NM_000477.6:c.248C>T | NP_000468.1:p.Ala83Val | |
| NM_000477.7:c.248C>T MANE Select | NP_000468.1:p.Ala83Val |