Linked Data
ClinVar Variation Id:
2031036
ClinVar RCV Id:
RCV002872149
MyVariant Identifiers:
chr16:g.14042093A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948236A>G , CM000678.2:g.13948236A>G | GRCh38 |
| NC_000016.9:g.14042093A>G , CM000678.1:g.14042093A>G | GRCh37 |
| NC_000016.8:g.13949594A>G | NCBI36 |
| NG_011442.1:g.33080A>G , LRG_463:g.33080A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682617.1:c.2778A>G | ENSP00000507912.1:p.Ser926= | |
| ENST00000683962.1:c.*2334A>G | ENSP00000506854.1:n.*2334A>G | |
| ENST00000311895.8:c.2640A>G MANE Select | ENSP00000310520.7:p.Ser880= | |
| ENST00000311895.7:c.2640A>G | ENSP00000310520.7:p.Ser880= | |
| ENST00000389138.7:n.1917A>G | ||
| NM_005236.2:c.2640A>G , LRG_463t1:c.2640A>G | NP_005227.1:p.Ser880= | |
| XM_011522424.1:c.2778A>G | XP_011520726.1:p.Ser926= | |
| XM_011522425.1:c.2097A>G | XP_011520727.1:p.Ser699= | |
| XM_011522426.1:c.1851A>G | XP_011520728.1:p.Ser617= | |
| XM_011522427.1:c.1290A>G | XP_011520729.1:p.Ser430= | |
| XR_932805.1:n.2799A>G | ||
| XM_011522424.3:c.2778A>G | XP_011520726.1:p.Ser926= | |
| XM_017023043.2:c.1851A>G | XP_016878532.1:p.Ser617= | |
| NM_005236.3:c.2640A>G MANE Select | NP_005227.1:p.Ser880= |