Revel Score:
ENST00000376207 (MANE Select)
0.962
ENST00000376199
0.962
ENST00000557224
0.962
ENST00000518685
0.962
ENST00000376197
0.962
ENST00000455775
0.962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49251480C>T , CM000685.2:g.49251480C>T | GRCh38 |
| NC_000023.10:g.49107941C>T , CM000685.1:g.49107941C>T | GRCh37 |
| NC_000023.9:g.48994885C>T | NCBI36 |
| NG_007392.1:g.18348G>A , LRG_62:g.18348G>A | |
| NG_021311.2:g.21016C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.1045G>A | ENSP00000365372.2:p.Ala349Thr | |
| ENST00000376207.10:c.1150G>A MANE Select | ENSP00000365380.4:p.Ala384Thr | |
| ENST00000455775.7:c.1219G>A | ENSP00000396415.3:p.Ala407Thr | |
| ENST00000518685.6:c.1069G>A | ENSP00000428952.2:p.Ala357Thr | |
| ENST00000557224.6:c.1225G>A | ENSP00000451208.1:p.Ala409Thr | |
| ENST00000651307.1:c.*65G>A | ENSP00000498454.1:n.*65G>A | |
| ENST00000376197.1:c.1180G>A | ENSP00000365369.1:p.Ala394Thr | |
| ENST00000376199.6:c.1045G>A | ENSP00000365372.2:p.Ala349Thr | |
| ENST00000376207.8:c.1150G>A | ENSP00000365380.4:p.Ala384Thr | |
| ENST00000455775.6:c.1219G>A | ENSP00000396415.3:p.Ala407Thr | |
| ENST00000518685.5:c.1045G>A | ENSP00000428952.1:p.Ala349Thr | |
| ENST00000557224.5:c.1225G>A | ENSP00000451208.1:p.Ala409Thr | |
| NM_001114377.1:c.1045G>A | NP_001107849.1:p.Ala349Thr | |
| NM_014009.3:c.1150G>A , LRG_62t1:c.1150G>A | NP_054728.2:p.Ala384Thr | |
| XM_006724533.2:c.1219G>A | XP_006724596.2:p.Ala407Thr | |
| XM_011543915.1:c.1549G>A | XP_011542217.1:p.Ala517Thr | |
| XM_011543916.1:c.1549G>A | XP_011542218.1:p.Ala517Thr | |
| XM_011543917.1:c.1168G>A | XP_011542219.1:p.Ala390Thr | |
| XM_011543918.1:c.1405G>A | XP_011542220.1:p.Ala469Thr | |
| XM_011543919.1:c.1369G>A | XP_011542221.1:p.Ala457Thr | |
| XM_017029567.1:c.1276G>A | XP_016885056.1:p.Ala426Thr | |
| NM_001114377.2:c.1045G>A | NP_001107849.1:p.Ala349Thr | |
| NM_014009.4:c.1150G>A MANE Select | NP_054728.2:p.Ala384Thr |