Linked Data
ClinVar Variation Id:
129778
dbSNP Id:
rs200598087
ExAC:
X:17710502 C / G
gnomAD v2:
X-17710502-C-G
gnomAD v3:
X-17692382-C-G
gnomAD v4:
X-17692382-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17692382C>G , CM000685.2:g.17692382C>G | GRCh38 |
| NC_000023.10:g.17710502C>G , CM000685.1:g.17710502C>G | GRCh37 |
| NC_000023.9:g.17620423C>G | NCBI36 |
| NG_011553.2:g.321963C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615422.2:n.1161C>G | ||
| ENST00000676302.1:c.766C>G MANE Select | ENSP00000502262.1:p.Leu256Val | |
| ENST00000380060.7:c.766C>G | ENSP00000369400.3:p.Leu256Val | |
| ENST00000398097.7:c.235C>G | ENSP00000381170.3:p.Leu79Val | |
| ENST00000615422.1:c.226C>G | ENSP00000480113.1:p.Leu76Val | |
| ENST00000617601.4:c.217C>G | ENSP00000478433.1:p.Leu73Val | |
| NM_001136024.3:c.235C>G | NP_001129496.1:p.Leu79Val | |
| NM_001291867.1:c.766C>G | NP_001278796.1:p.Leu256Val | |
| NM_001291868.1:c.235C>G | NP_001278797.1:p.Leu79Val | |
| NM_198270.3:c.766C>G | NP_938011.1:p.Leu256Val | |
| NM_001136024.4:c.235C>G | NP_001129496.1:p.Leu79Val | |
| NM_001291867.2:c.766C>G MANE Select | NP_001278796.1:p.Leu256Val | |
| NM_001291868.2:c.235C>G | NP_001278797.1:p.Leu79Val | |
| NM_198270.4:c.766C>G | NP_938011.1:p.Leu256Val |