MyVariant.info:
GRCh37
chr16:g.14042003C>T
gnomAD v4:
Joint Max Group AF
0.00005818 (MID)
Exomes Max Group AF
0.00006092 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948146C>T , CM000678.2:g.13948146C>T | GRCh38 |
| NC_000016.9:g.14042003C>T , CM000678.1:g.14042003C>T | GRCh37 |
| NC_000016.8:g.13949504C>T | NCBI36 |
| NG_011442.1:g.32990C>T , LRG_463:g.32990C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2688C>T | ENSP00000507912.1:p.Asp896= | |
| ENST00000683962.1:c.*2244C>T | ENSP00000506854.1:n.*2244C>T | |
| ENST00000311895.8:c.2550C>T MANE Select | ENSP00000310520.7:p.Asp850= | |
| ENST00000311895.7:c.2550C>T | ENSP00000310520.7:p.Asp850= | |
| ENST00000389138.7:n.1827C>T | ||
| NM_005236.2:c.2550C>T , LRG_463t1:c.2550C>T | NP_005227.1:p.Asp850= | |
| XM_011522424.1:c.2688C>T | XP_011520726.1:p.Asp896= | |
| XM_011522425.1:c.2007C>T | XP_011520727.1:p.Asp669= | |
| XM_011522426.1:c.1761C>T | XP_011520728.1:p.Asp587= | |
| XM_011522427.1:c.1200C>T | XP_011520729.1:p.Asp400= | |
| XR_932805.1:n.2709C>T | ||
| XM_011522424.3:c.2688C>T | XP_011520726.1:p.Asp896= | |
| XM_017023043.2:c.1761C>T | XP_016878532.1:p.Asp587= | |
| NM_005236.3:c.2550C>T MANE Select | NP_005227.1:p.Asp850= |