Linked Data
ClinVar Variation Id:
329503
dbSNP Id:
rs546902024
ExAC:
19:45855515 G / C
gnomAD v2:
19-45855515-G-C
gnomAD v3:
19-45352257-G-C
gnomAD v4:
19-45352257-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352257G>C , CM000681.2:g.45352257G>C | GRCh38 |
| NC_000019.9:g.45855515G>C , CM000681.1:g.45855515G>C | GRCh37 |
| NC_000019.8:g.50547355G>C | NCBI36 |
| NG_007067.2:g.23331C>G , LRG_461:g.23331C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2142C>G | ENSP00000375808.4:p.Val714= | |
| ENST00000682414.1:c.2142C>G | ENSP00000507019.1:p.Val714= | |
| ENST00000682508.1:n.2171C>G | ||
| ENST00000684218.1:c.*1400C>G | ENSP00000507804.1:n.*1400C>G | |
| ENST00000684264.1:n.1698C>G | ||
| ENST00000684407.1:c.2019C>G | ENSP00000507775.1:p.Val673= | |
| ENST00000684458.1:c.*628C>G | ENSP00000508260.1:n.*628C>G | |
| ENST00000684468.1:n.1854C>G | ||
| ENST00000391945.10:c.2142C>G MANE Select | ENSP00000375809.4:p.Val714= | |
| ENST00000646507.1:n.2239C>G | ||
| ENST00000391941.6:c.2070C>G | ENSP00000375805.2:p.Val690= | |
| ENST00000391942.6:n.1313C>G | ||
| ENST00000391944.7:c.1908C>G | ENSP00000375808.3:p.Val636= | |
| ENST00000391945.8:c.2142C>G | ENSP00000375809.3:p.Val714= | |
| ENST00000588652.5:n.2230C>G | ||
| NM_000400.3:c.2142C>G , LRG_461t1:c.2142C>G | NP_000391.1:p.Val714= | |
| XM_011526611.1:c.2064C>G | XP_011524913.1:p.Val688= | |
| XM_011526611.2:c.2064C>G | XP_011524913.1:p.Val688= | |
| XM_017026467.1:c.2019C>G | XP_016881956.1:p.Val673= | |
| XR_001753633.2:n.2189C>G | ||
| XR_001753634.2:n.2125C>G | ||
| NM_000400.4:c.2142C>G MANE Select | NP_000391.1:p.Val714= |