Linked Data
ClinVar Variation Id:
18214
ClinVar RCV Id:
RCV000019874
dbSNP Id:
rs74821926
gnomAD v2:
4-74270115-G-T
gnomAD v4:
4-73404398-G-T
PubMed:
PMID:2792379
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404398G>T , CM000666.2:g.73404398G>T | GRCh38 |
| NC_000004.11:g.74270115G>T , CM000666.1:g.74270115G>T | GRCh37 |
| NC_000004.10:g.74488979G>T | NCBI36 |
| NG_009291.1:g.5144G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.71G>T MANE Select | ENSP00000295897.4:p.Arg24Leu | |
| ENST00000295897.8:c.71G>T | ENSP00000295897.4:p.Arg24Leu | |
| ENST00000401494.7:c.71G>T | ENSP00000384695.3:p.Arg24Leu | |
| ENST00000415165.6:c.71G>T | ENSP00000401820.2:p.Arg24Leu | |
| ENST00000441319.5:c.77G>T | ENSP00000392541.1:p.Arg26Leu | |
| ENST00000476441.6:c.71G>T | ENSP00000423727.1:p.Arg24Leu | |
| ENST00000503124.5:c.-110G>T | ENSP00000421027.1:n.-110G>T | |
| ENST00000509063.5:c.71G>T | ENSP00000422784.1:p.Arg24Leu | |
| ENST00000510166.5:n.112G>T | ||
| ENST00000514786.1:n.48+62G>T | ||
| ENST00000515133.5:n.112G>T | ||
| ENST00000621085.4:c.71G>T | ENSP00000483421.1:p.Arg24Leu | |
| ENST00000621628.4:c.71G>T | ENSP00000480485.1:p.Arg24Leu | |
| NM_000477.5:c.71G>T | NP_000468.1:p.Arg24Leu | |
| NM_000477.6:c.71G>T | NP_000468.1:p.Arg24Leu | |
| NM_000477.7:c.71G>T MANE Select | NP_000468.1:p.Arg24Leu |