Linked Data
ClinVar Variation Id:
1502330
ClinVar RCV Id:
RCV002045145
dbSNP Id:
rs899780729
gnomAD v2:
16-10032111-G-C
gnomAD v4:
16-9938254-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9938254G>C , CM000678.2:g.9938254G>C | GRCh38 |
| NC_000016.9:g.10032111G>C , CM000678.1:g.10032111G>C | GRCh37 |
| NC_000016.8:g.9939612G>C | NCBI36 |
| NG_011812.1:g.249501C>G | |
| NG_011812.2:g.249501C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.712C>G MANE Select | ENSP00000332549.3:p.Leu238Val | |
| ENST00000535259.6:c.241C>G | ENSP00000441572.3:p.Leu81Val | |
| ENST00000636273.2:n.305C>G | ||
| ENST00000637393.1:c.304C>G | ENSP00000490232.1:p.Leu102Val | |
| ENST00000674742.1:c.241C>G | ENSP00000502200.1:p.Leu81Val | |
| ENST00000675189.1:n.1196C>G | ||
| ENST00000675398.1:c.712C>G | ENSP00000502752.1:p.Leu238Val | |
| ENST00000330684.3:c.712C>G | ENSP00000332549.3:p.Leu238Val | |
| ENST00000396573.6:c.712C>G | ENSP00000379818.2:p.Leu238Val | |
| ENST00000396575.6:c.301C>G | ENSP00000379820.3:p.Leu101Val | |
| ENST00000461292.3:n.351C>G | ||
| ENST00000535259.5:c.301C>G | ENSP00000441572.2:p.Leu101Val | |
| ENST00000562109.5:c.712C>G | ENSP00000454998.1:p.Leu238Val | |
| ENST00000566670.2:n.554C>G | ||
| ENST00000566683.1:n.241-47154C>G | ||
| ENST00000568247.3:n.604C>G | ||
| NM_000833.4:c.712C>G | NP_000824.1:p.Leu238Val | |
| NM_001134407.2:c.712C>G | NP_001127879.1:p.Leu238Val | |
| NM_001134408.2:c.712C>G | NP_001127880.1:p.Leu238Val | |
| XM_011522456.1:c.553C>G | XP_011520758.1:p.Leu185Val | |
| XM_011522457.1:c.454C>G | XP_011520759.1:p.Leu152Val | |
| XM_011522458.1:c.241C>G | XP_011520760.1:p.Leu81Val | |
| XM_011522459.1:c.241C>G | XP_011520761.1:p.Leu81Val | |
| XM_011522460.1:c.241C>G | XP_011520762.1:p.Leu81Val | |
| XM_011522461.1:c.712C>G | XP_011520763.1:p.Leu238Val | |
| XM_011522458.3:c.241C>G | XP_011520760.1:p.Leu81Val | |
| XM_011522461.3:c.712C>G | XP_011520763.1:p.Leu238Val | |
| XM_017023172.1:c.868C>G | XP_016878661.1:p.Leu290Val | |
| XM_017023173.1:c.868C>G | XP_016878662.1:p.Leu290Val | |
| NM_001134407.3:c.712C>G MANE Select | NP_001127879.1:p.Leu238Val | |
| NM_000833.5:c.712C>G | NP_000824.1:p.Leu238Val |