Linked Data
ClinVar Variation Id:
129007
dbSNP Id:
rs1799801
ExAC:
16:14041958 T / C
gnomAD v2:
16-14041958-T-C
gnomAD v3:
16-13948101-T-C
gnomAD v4:
16-13948101-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948101T>C , CM000678.2:g.13948101T>C | GRCh38 |
| NC_000016.9:g.14041958T>C , CM000678.1:g.14041958T>C | GRCh37 |
| NC_000016.8:g.13949459T>C | NCBI36 |
| NG_011442.1:g.32945T>C , LRG_463:g.32945T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682617.1:c.2643T>C | ENSP00000507912.1:p.Ser881= | |
| ENST00000683962.1:c.*2199T>C | ENSP00000506854.1:n.*2199T>C | |
| ENST00000311895.8:c.2505T>C MANE Select | ENSP00000310520.7:p.Ser835= | |
| ENST00000311895.7:c.2505T>C | ENSP00000310520.7:p.Ser835= | |
| ENST00000389138.7:n.1782T>C | ||
| NM_005236.2:c.2505T>C , LRG_463t1:c.2505T>C | NP_005227.1:p.Ser835= | |
| XM_011522424.1:c.2643T>C | XP_011520726.1:p.Ser881= | |
| XM_011522425.1:c.1962T>C | XP_011520727.1:p.Ser654= | |
| XM_011522426.1:c.1716T>C | XP_011520728.1:p.Ser572= | |
| XM_011522427.1:c.1155T>C | XP_011520729.1:p.Ser385= | |
| XR_932805.1:n.2664T>C | ||
| XM_011522424.3:c.2643T>C | XP_011520726.1:p.Ser881= | |
| XM_017023043.2:c.1716T>C | XP_016878532.1:p.Ser572= | |
| NM_005236.3:c.2505T>C MANE Select | NP_005227.1:p.Ser835= |