Revel Score:
ENST00000312175 (MANE Select)
0.343
ENST00000445560
0.343
ENST00000530204
0.343
ENST00000533166
0.343
ENST00000527348
0.343
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66003284G>A , CM000673.2:g.66003284G>A | GRCh38 |
| NC_000011.9:g.65770755G>A , CM000673.1:g.65770755G>A | GRCh37 |
| NC_000011.8:g.65527331G>A | NCBI36 |
| NG_031874.1:g.6206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312175.7:c.34G>A MANE Select | ENSP00000310275.2:p.Ala12Thr | |
| ENST00000312175.6:c.34G>A | ENSP00000310275.2:p.Ala12Thr | |
| ENST00000445560.6:c.34G>A | ENSP00000416128.2:p.Ala12Thr | |
| ENST00000524628.1:n.92-342G>A | ||
| ENST00000524663.1:n.199-342G>A | ||
| ENST00000527348.1:c.34G>A | ENSP00000432867.1:p.Ala12Thr | |
| ENST00000528648.1:n.49G>A | ||
| ENST00000530204.1:c.34G>A | ENSP00000431785.1:p.Ala12Thr | |
| ENST00000533166.5:c.34G>A | ENSP00000433760.1:p.Ala12Thr | |
| NM_001143985.1:c.34G>A | NP_001137457.1:p.Ala12Thr | |
| NM_003860.3:c.34G>A | NP_003851.1:p.Ala12Thr | |
| XM_017018514.1:c.34G>A | XP_016874003.1:p.Ala12Thr | |
| XM_017018515.2:c.34G>A | XP_016874004.1:p.Ala12Thr | |
| NM_003860.4:c.34G>A MANE Select | NP_003851.1:p.Ala12Thr |