Linked Data
dbSNP Id:
rs559479480
gnomAD v2:
22-19950107-G-C
gnomAD v4:
22-19962584-G-C
COSMIC:
COSM4994751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19962584G>C , CM000684.2:g.19962584G>C | GRCh38 |
| NC_000022.10:g.19950107G>C , CM000684.1:g.19950107G>C | GRCh37 |
| NC_000022.9:g.18330107G>C | NCBI36 |
| NG_011526.1:g.25845G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.58G>C MANE Select | ENSP00000354511.6:p.Val20Leu | |
| ENST00000428707.2:c.58G>C | ENSP00000387695.2:p.Val20Leu | |
| ENST00000676678.1:c.58G>C | ENSP00000503719.1:p.Val20Leu | |
| ENST00000678255.1:c.58G>C | ENSP00000504402.1:p.Val20Leu | |
| ENST00000678769.1:c.58G>C | ENSP00000503289.1:p.Val20Leu | |
| ENST00000678868.1:c.58G>C | ENSP00000503583.1:p.Val20Leu | |
| ENST00000207636.9:c.58G>C | ENSP00000207636.5:p.Val20Leu | |
| ENST00000361682.10:c.58G>C | ENSP00000354511.6:p.Val20Leu | |
| ENST00000403184.5:c.58G>C | ENSP00000383966.1:p.Val20Leu | |
| ENST00000403710.5:c.58G>C | ENSP00000385917.1:p.Val20Leu | |
| ENST00000406520.7:c.58G>C | ENSP00000385150.3:p.Val20Leu | |
| ENST00000407537.5:c.58G>C | ENSP00000384654.2:p.Val20Leu | |
| ENST00000412786.5:c.58G>C | ENSP00000403958.1:p.Val20Leu | |
| ENST00000449653.5:c.-93G>C | ENSP00000416778.1:n.-93G>C | |
| ENST00000467943.5:n.254G>C | ||
| NM_000754.3:c.58G>C | NP_000745.1:p.Val20Leu | |
| NM_001135161.1:c.58G>C | NP_001128633.1:p.Val20Leu | |
| NM_001135162.1:c.58G>C | NP_001128634.1:p.Val20Leu | |
| NM_007310.2:c.-93G>C | NP_009294.1:n.-93G>C | |
| XM_011529885.1:c.172G>C | XP_011528187.1:p.Val58Leu | |
| XM_011529886.1:c.172G>C | XP_011528188.1:p.Val58Leu | |
| XM_011529887.1:c.58G>C | XP_011528189.1:p.Val20Leu | |
| XM_011529888.1:c.58G>C | XP_011528190.1:p.Val20Leu | |
| XM_011529889.1:c.58G>C | XP_011528191.1:p.Val20Leu | |
| XM_011529890.1:c.58G>C | XP_011528192.1:p.Val20Leu | |
| XM_011529891.1:c.58G>C | XP_011528193.1:p.Val20Leu | |
| NM_001362828.1:c.58G>C | NP_001349757.1:p.Val20Leu | |
| XM_011529886.2:c.469G>C | XP_011528188.2:p.Val157Leu | |
| XM_017028595.1:c.58G>C | XP_016884084.1:p.Val20Leu | |
| NM_000754.4:c.58G>C MANE Select | NP_000745.1:p.Val20Leu | |
| NM_001135161.2:c.58G>C | NP_001128633.1:p.Val20Leu | |
| NM_001135162.2:c.58G>C | NP_001128634.1:p.Val20Leu | |
| NM_001362828.2:c.58G>C | NP_001349757.1:p.Val20Leu | |
| NM_007310.3:c.-93G>C | NP_009294.1:n.-93G>C |