Linked Data
ClinVar Variation Id:
256786
dbSNP Id:
rs4818
ExAC:
22:19951207 C / G
gnomAD v2:
22-19951207-C-G
gnomAD v3:
22-19963684-C-G
gnomAD v4:
22-19963684-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19963684C>G , CM000684.2:g.19963684C>G | GRCh38 |
| NC_000022.10:g.19951207C>G , CM000684.1:g.19951207C>G | GRCh37 |
| NC_000022.9:g.18331207C>G | NCBI36 |
| NG_011526.1:g.26945C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361682.11:c.408C>G MANE Select | ENSP00000354511.6:p.Leu136= | |
| ENST00000428707.2:c.408C>G | ENSP00000387695.2:p.Leu136= | |
| ENST00000676678.1:c.408C>G | ENSP00000503719.1:p.Leu136= | |
| ENST00000677397.1:c.258C>G | ENSP00000503422.1:p.Leu86= | |
| ENST00000677564.1:n.191C>G | ||
| ENST00000677675.1:n.208C>G | ||
| ENST00000678240.1:n.256C>G | ||
| ENST00000678255.1:c.408C>G | ENSP00000504402.1:p.Leu136= | |
| ENST00000678769.1:c.408C>G | ENSP00000503289.1:p.Leu136= | |
| ENST00000678868.1:c.408C>G | ENSP00000503583.1:p.Leu136= | |
| ENST00000678945.1:n.218C>G | ||
| ENST00000207636.9:c.408C>G | ENSP00000207636.5:p.Leu136= | |
| ENST00000361682.10:c.408C>G | ENSP00000354511.6:p.Leu136= | |
| ENST00000403184.5:c.408C>G | ENSP00000383966.1:p.Leu136= | |
| ENST00000403710.5:c.408C>G | ENSP00000385917.1:p.Leu136= | |
| ENST00000406520.7:c.408C>G | ENSP00000385150.3:p.Leu136= | |
| ENST00000407537.5:c.408C>G | ENSP00000384654.2:p.Leu136= | |
| ENST00000412786.5:c.408C>G | ENSP00000403958.1:p.Leu136= | |
| ENST00000449653.5:c.258C>G | ENSP00000416778.1:p.Leu86= | |
| ENST00000493893.1:n.146C>G | ||
| NM_000754.3:c.408C>G | NP_000745.1:p.Leu136= | |
| NM_001135161.1:c.408C>G | NP_001128633.1:p.Leu136= | |
| NM_001135162.1:c.408C>G | NP_001128634.1:p.Leu136= | |
| NM_007310.2:c.258C>G | NP_009294.1:p.Leu86= | |
| XM_011529885.1:c.522C>G | XP_011528187.1:p.Leu174= | |
| XM_011529886.1:c.522C>G | XP_011528188.1:p.Leu174= | |
| XM_011529887.1:c.408C>G | XP_011528189.1:p.Leu136= | |
| XM_011529888.1:c.408C>G | XP_011528190.1:p.Leu136= | |
| XM_011529889.1:c.408C>G | XP_011528191.1:p.Leu136= | |
| XM_011529890.1:c.408C>G | XP_011528192.1:p.Leu136= | |
| XM_011529891.1:c.408C>G | XP_011528193.1:p.Leu136= | |
| NM_001362828.1:c.408C>G | NP_001349757.1:p.Leu136= | |
| XM_011529886.2:c.819C>G | XP_011528188.2:p.Leu273= | |
| XM_017028595.1:c.408C>G | XP_016884084.1:p.Leu136= | |
| NM_000754.4:c.408C>G MANE Select | NP_000745.1:p.Leu136= | |
| NM_001135161.2:c.408C>G | NP_001128633.1:p.Leu136= | |
| NM_001135162.2:c.408C>G | NP_001128634.1:p.Leu136= | |
| NM_001362828.2:c.408C>G | NP_001349757.1:p.Leu136= | |
| NM_007310.3:c.258C>G | NP_009294.1:p.Leu86= |