Linked Data
ClinVar Variation Id:
1497472
ClinVar RCV Id:
RCV002019441
dbSNP Id:
rs1396520212
gnomAD v4:
19-45352277-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352277G>C , CM000681.2:g.45352277G>C | GRCh38 |
| NC_000019.9:g.45855535G>C , CM000681.1:g.45855535G>C | GRCh37 |
| NC_000019.8:g.50547375G>C | NCBI36 |
| NG_007067.2:g.23311C>G , LRG_461:g.23311C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2122C>G | ENSP00000375808.4:p.Leu708Val | |
| ENST00000682414.1:c.2122C>G | ENSP00000507019.1:p.Leu708Val | |
| ENST00000682508.1:n.2151C>G | ||
| ENST00000684218.1:c.*1380C>G | ENSP00000507804.1:n.*1380C>G | |
| ENST00000684264.1:n.1678C>G | ||
| ENST00000684407.1:c.1999C>G | ENSP00000507775.1:p.Leu667Val | |
| ENST00000684458.1:c.*608C>G | ENSP00000508260.1:n.*608C>G | |
| ENST00000684468.1:n.1834C>G | ||
| ENST00000391945.10:c.2122C>G MANE Select | ENSP00000375809.4:p.Leu708Val | |
| ENST00000646507.1:n.2219C>G | ||
| ENST00000391941.6:c.2050C>G | ENSP00000375805.2:p.Leu684Val | |
| ENST00000391942.6:n.1293C>G | ||
| ENST00000391944.7:c.1888C>G | ENSP00000375808.3:p.Leu630Val | |
| ENST00000391945.8:c.2122C>G | ENSP00000375809.3:p.Leu708Val | |
| ENST00000588652.5:n.2210C>G | ||
| NM_000400.3:c.2122C>G , LRG_461t1:c.2122C>G | NP_000391.1:p.Leu708Val | |
| XM_011526611.1:c.2044C>G | XP_011524913.1:p.Leu682Val | |
| XM_011526611.2:c.2044C>G | XP_011524913.1:p.Leu682Val | |
| XM_017026467.1:c.1999C>G | XP_016881956.1:p.Leu667Val | |
| XR_001753633.2:n.2169C>G | ||
| XR_001753634.2:n.2105C>G | ||
| NM_000400.4:c.2122C>G MANE Select | NP_000391.1:p.Leu708Val |