Linked Data
ClinVar Variation Id:
820685
ClinVar RCV Id:
RCV001014379
dbSNP Id:
rs1596965954
MyVariant Identifiers:
chr16:g.68857450T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68823547T>C , CM000678.2:g.68823547T>C | GRCh38 |
| NC_000016.9:g.68857450T>C , CM000678.1:g.68857450T>C | GRCh37 |
| NC_000016.8:g.67414951T>C | NCBI36 |
| NG_008021.1:g.91256T>C , LRG_301:g.91256T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.2085T>C MANE Select | ENSP00000261769.4:p.Cys695= | |
| ENST00000261769.9:c.2085T>C | ENSP00000261769.4:p.Cys695= | |
| ENST00000422392.6:c.1902T>C | ENSP00000414946.2:p.Cys634= | |
| ENST00000562118.1:n.303T>C | ||
| ENST00000562836.5:n.2156T>C | ||
| ENST00000566510.5:c.*751T>C | ENSP00000458139.1:n.*751T>C | |
| ENST00000566612.5:c.*325T>C | ENSP00000454782.1:n.*325T>C | |
| ENST00000611625.4:c.2148T>C | ENSP00000481063.1:p.Cys716= | |
| ENST00000612417.4:c.1830+1428T>C | ENSP00000478360.1:n.1830+1428T>C | |
| ENST00000621016.4:c.1865+1393T>C | ENSP00000480664.1:n.1865+1393T>C | |
| NM_004360.3:c.2085T>C , LRG_301t1:c.2085T>C | NP_004351.1:p.Cys695= | |
| XM_011523488.1:c.1350T>C | XP_011521790.1:p.Cys450= | |
| XM_011523489.1:c.1350T>C | XP_011521791.1:p.Cys450= | |
| NM_001317184.1:c.1902T>C | NP_001304113.1:p.Cys634= | |
| NM_001317185.1:c.537T>C | NP_001304114.1:p.Cys179= | |
| NM_001317186.1:c.120T>C | NP_001304115.1:p.Cys40= | |
| NM_004360.4:c.2085T>C | NP_004351.1:p.Cys695= | |
| NM_004360.5:c.2085T>C MANE Select | NP_004351.1:p.Cys695= | |
| NM_001317184.2:c.1902T>C | NP_001304113.1:p.Cys634= | |
| NM_001317185.2:c.537T>C | NP_001304114.1:p.Cys179= | |
| NM_001317186.2:c.120T>C | NP_001304115.1:p.Cys40= |