Linked Data
ClinVar Variation Id:
2827653
ClinVar RCV Id:
RCV003683723
MyVariant Identifiers:
chr19:g.45856028G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352770G>C , CM000681.2:g.45352770G>C | GRCh38 |
| NC_000019.9:g.45856028G>C , CM000681.1:g.45856028G>C | GRCh37 |
| NC_000019.8:g.50547868G>C | NCBI36 |
| NG_007067.2:g.22818C>G , LRG_461:g.22818C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1878C>G | ENSP00000375808.4:p.Val626= | |
| ENST00000682414.1:c.1878C>G | ENSP00000507019.1:p.Val626= | |
| ENST00000682508.1:n.1907C>G | ||
| ENST00000684218.1:c.*1136C>G | ENSP00000507804.1:n.*1136C>G | |
| ENST00000684264.1:n.1434C>G | ||
| ENST00000684407.1:c.1755C>G | ENSP00000507775.1:p.Val585= | |
| ENST00000684458.1:c.*364C>G | ENSP00000508260.1:n.*364C>G | |
| ENST00000684468.1:n.1590C>G | ||
| ENST00000391945.10:c.1878C>G MANE Select | ENSP00000375809.4:p.Val626= | |
| ENST00000646507.1:n.1975C>G | ||
| ENST00000391941.6:c.1806C>G | ENSP00000375805.2:p.Val602= | |
| ENST00000391942.6:n.1049C>G | ||
| ENST00000391944.7:c.1644C>G | ENSP00000375808.3:p.Val548= | |
| ENST00000391945.8:c.1878C>G | ENSP00000375809.3:p.Val626= | |
| ENST00000588652.5:n.1966C>G | ||
| NM_000400.3:c.1878C>G , LRG_461t1:c.1878C>G | NP_000391.1:p.Val626= | |
| XM_011526611.1:c.1800C>G | XP_011524913.1:p.Val600= | |
| XM_011526611.2:c.1800C>G | XP_011524913.1:p.Val600= | |
| XM_017026467.1:c.1755C>G | XP_016881956.1:p.Val585= | |
| XR_001753633.2:n.1925C>G | ||
| XR_001753634.2:n.1861C>G | ||
| NM_000400.4:c.1878C>G MANE Select | NP_000391.1:p.Val626= |