Revel Score:
ENST00000311895 (MANE Select)
0.534
ENST00000389138
0.534
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948145A>G , CM000678.2:g.13948145A>G | GRCh38 |
| NC_000016.9:g.14042002A>G , CM000678.1:g.14042002A>G | GRCh37 |
| NC_000016.8:g.13949503A>G | NCBI36 |
| NG_011442.1:g.32989A>G , LRG_463:g.32989A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2687A>G | ENSP00000507912.1:p.Asp896Gly | |
| ENST00000683962.1:c.*2243A>G | ENSP00000506854.1:n.*2243A>G | |
| ENST00000311895.8:c.2549A>G MANE Select | ENSP00000310520.7:p.Asp850Gly | |
| ENST00000311895.7:c.2549A>G | ENSP00000310520.7:p.Asp850Gly | |
| ENST00000389138.7:n.1826A>G | ||
| NM_005236.2:c.2549A>G , LRG_463t1:c.2549A>G | NP_005227.1:p.Asp850Gly | |
| XM_011522424.1:c.2687A>G | XP_011520726.1:p.Asp896Gly | |
| XM_011522425.1:c.2006A>G | XP_011520727.1:p.Asp669Gly | |
| XM_011522426.1:c.1760A>G | XP_011520728.1:p.Asp587Gly | |
| XM_011522427.1:c.1199A>G | XP_011520729.1:p.Asp400Gly | |
| XR_932805.1:n.2708A>G | ||
| XM_011522424.3:c.2687A>G | XP_011520726.1:p.Asp896Gly | |
| XM_017023043.2:c.1760A>G | XP_016878532.1:p.Asp587Gly | |
| NM_005236.3:c.2549A>G MANE Select | NP_005227.1:p.Asp850Gly |