Linked Data
dbSNP Id:
rs782298309
ExAC:
X:152858077 G / C
gnomAD v2:
X-152858077-G-C
gnomAD v4:
X-153592619-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153592619G>C , CM000685.2:g.153592619G>C | GRCh38 |
| NC_000023.10:g.152858077G>C , CM000685.1:g.152858077G>C | GRCh37 |
| NC_000023.9:g.152511271G>C | NCBI36 |
| NG_008393.2:g.11559C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576892.8:c.544C>G MANE Select | ENSP00000461135.1:p.Leu182Val | |
| ENST00000429336.5:c.193+1928C>G | ||
| ENST00000440428.5:c.544C>G | ENSP00000402949.2:p.Leu182Val | |
| ENST00000482182.3:c.418C>G | ENSP00000466345.1:p.Leu140Val | |
| ENST00000576892.7:c.544C>G | ENSP00000461135.1:p.Leu182Val | |
| ENST00000614850.1:c.277+3385C>G | ||
| ENST00000614851.4:c.365C>G | ||
| ENST00000620088.4:c.*420C>G | ENSP00000484108.1:n.*420C>G | |
| ENST00000621629.4:c.*420C>G | ENSP00000478747.1:n.*420C>G | |
| ENST00000621817.1:c.*709C>G | ENSP00000481634.1:n.*709C>G | |
| NM_001130997.2:c.544C>G | NP_001124469.1:p.Leu182Val | |
| NM_152274.4:c.544C>G | NP_689487.2:p.Leu182Val | |
| XM_005277920.3:c.514C>G | XP_005277977.1:p.Leu172Val | |
| XM_005277921.3:c.514C>G | XP_005277978.1:p.Leu172Val | |
| XM_011531213.1:c.418C>G | XP_011529515.1:p.Leu140Val | |
| XM_011531214.1:c.418C>G | XP_011529516.1:p.Leu140Val | |
| XM_011531215.1:c.418C>G | XP_011529517.1:p.Leu140Val | |
| XM_005277920.4:c.514C>G | XP_005277977.1:p.Leu172Val | |
| XM_005277921.4:c.514C>G | XP_005277978.1:p.Leu172Val | |
| XM_011531214.2:c.418C>G | XP_011529516.1:p.Leu140Val | |
| XM_011531215.2:c.418C>G | XP_011529517.1:p.Leu140Val | |
| XR_002958810.1:n.2449C>G | ||
| NM_152274.5:c.544C>G MANE Select | NP_689487.2:p.Leu182Val | |
| NM_001130997.3:c.544C>G | NP_001124469.1:p.Leu182Val |