Revel Score:
ENST00000349716
0.940
ENST00000310346
0.940
ENST00000405440 (MANE Select)
0.940
ENST00000526441
0.940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114401853G>T , CM000674.2:g.114401853G>T | GRCh38 |
| NC_000012.11:g.114839658G>T , CM000674.1:g.114839658G>T | GRCh37 |
| NC_000012.10:g.113324041G>T | NCBI36 |
| NG_007373.1:g.11590C>A , LRG_670:g.11590C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.215C>A MANE Select | ENSP00000384152.3:p.Thr72Lys | |
| ENST00000310346.8:c.215C>A | ENSP00000309913.4:p.Thr72Lys | |
| ENST00000349716.9:c.65C>A | ENSP00000337723.5:p.Thr22Lys | |
| ENST00000405440.6:c.215C>A | ENSP00000384152.2:p.Thr72Lys | |
| ENST00000526441.1:c.215C>A | ENSP00000433292.1:p.Thr72Lys | |
| ENST00000552726.1:n.266C>A | ||
| NM_000192.3:c.215C>A , LRG_670t1:c.215C>A | NP_000183.2:p.Thr72Lys | |
| NM_080717.2:c.65C>A | NP_542448.1:p.Thr22Lys | |
| NM_181486.2:c.215C>A | NP_852259.1:p.Thr72Lys | |
| XM_017019912.1:c.263C>A | XP_016875401.1:p.Thr88Lys | |
| NM_080717.3:c.65C>A | NP_542448.1:p.Thr22Lys | |
| NM_181486.4:c.215C>A MANE Select | NP_852259.1:p.Thr72Lys | |
| NM_080717.4:c.65C>A | NP_542448.1:p.Thr22Lys |