Linked Data
ClinVar Variation Id:
392543
dbSNP Id:
rs200368564
ExAC:
2:73680015 G / C
gnomAD v2:
2-73680015-G-C
gnomAD v3:
2-73452888-G-C
gnomAD v4:
2-73452888-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73452888G>C , CM000664.2:g.73452888G>C | GRCh38 |
| NC_000002.11:g.73680015G>C , CM000664.1:g.73680015G>C | GRCh37 |
| NC_000002.10:g.73533523G>C | NCBI36 |
| NG_011690.1:g.72136G>C , LRG_741:g.72136G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.5980G>C | ENSP00000507671.1:p.Val1994Leu | |
| ENST00000682801.1:c.5980G>C | ENSP00000507862.1:p.Val1994Leu | |
| ENST00000682859.1:c.5980G>C | ENSP00000508222.1:p.Val1994Leu | |
| ENST00000683791.1:c.685+20597G>C | ||
| ENST00000684197.1:n.1330G>C | ||
| ENST00000684460.1:c.3432G>C | ||
| ENST00000684548.1:c.5980G>C | ENSP00000507421.1:p.Val1994Leu | |
| ENST00000684590.1:c.478G>C | ENSP00000507376.1:p.Val160Leu | |
| ENST00000684656.1:c.3432G>C | ||
| ENST00000613296.6:c.6361G>C MANE Select | ENSP00000482968.1:p.Val2121Leu | |
| ENST00000423048.5:c.1192G>C | ENSP00000399833.1:p.Val398Leu | |
| ENST00000484298.5:c.6235G>C | ENSP00000478155.1:p.Val2079Leu | |
| ENST00000613296.4:c.6361G>C | ENSP00000482968.1:p.Val2121Leu | |
| ENST00000614410.4:c.6361G>C | ENSP00000479094.1:p.Val2121Leu | |
| ENST00000620466.4:n.164G>C | ||
| NM_015120.4:c.6364G>C , LRG_741t1:c.6364G>C | NP_055935.4:p.Val2122Leu | |
| NM_001378454.1:c.6361G>C MANE Select | NP_001365383.1:p.Val2121Leu |