Linked Data
ClinVar Variation Id:
415021
ClinVar RCV Id:
RCV000472869
dbSNP Id:
rs776049363
ExAC:
16:14029466 T / C
gnomAD v2:
16-14029466-T-C
gnomAD v4:
16-13935609-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13935609T>C , CM000678.2:g.13935609T>C | GRCh38 |
| NC_000016.9:g.14029466T>C , CM000678.1:g.14029466T>C | GRCh37 |
| NC_000016.8:g.13936967T>C | NCBI36 |
| NG_011442.1:g.20453T>C , LRG_463:g.20453T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682568.1:n.1755T>C | ||
| ENST00000682617.1:c.1815T>C | ENSP00000507912.1:p.Gly605= | |
| ENST00000682826.1:c.*991T>C | ENSP00000507274.1:n.*991T>C | |
| ENST00000682909.1:n.3717T>C | ||
| ENST00000683277.1:n.3322T>C | ||
| ENST00000683407.1:n.1685T>C | ||
| ENST00000683962.1:c.*1371T>C | ENSP00000506854.1:n.*1371T>C | |
| ENST00000311895.8:c.1677T>C MANE Select | ENSP00000310520.7:p.Gly559= | |
| ENST00000311895.7:c.1677T>C | ENSP00000310520.7:p.Gly559= | |
| ENST00000389138.7:n.954T>C | ||
| NM_005236.2:c.1677T>C , LRG_463t1:c.1677T>C | NP_005227.1:p.Gly559= | |
| XM_011522424.1:c.1815T>C | XP_011520726.1:p.Gly605= | |
| XM_011522425.1:c.1134T>C | XP_011520727.1:p.Gly378= | |
| XM_011522426.1:c.888T>C | XP_011520728.1:p.Gly296= | |
| XM_011522427.1:c.327T>C | XP_011520729.1:p.Gly109= | |
| XR_932805.1:n.1836T>C | ||
| XM_011522424.3:c.1815T>C | XP_011520726.1:p.Gly605= | |
| XM_017023043.2:c.888T>C | XP_016878532.1:p.Gly296= | |
| NM_005236.3:c.1677T>C MANE Select | NP_005227.1:p.Gly559= |