Revel Score:
ENST00000377567
0.128
ENST00000377574 (MANE Select)
0.128
ENST00000377572
0.128
ENST00000473690
0.128
ENST00000336464
0.128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64598574C>A , CM000673.2:g.64598574C>A | GRCh38 |
| NC_000011.9:g.64366046C>A , CM000673.1:g.64366046C>A | GRCh37 |
| NC_000011.8:g.64122622C>A | NCBI36 |
| NG_008110.1:g.12765C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377574.6:c.889C>A MANE Select | ENSP00000366797.1:p.Gln297Lys | |
| ENST00000336464.7:c.787C>A | ENSP00000336836.7:p.Gln263Lys | |
| ENST00000377567.6:c.565C>A | ENSP00000366790.2:p.Gln189Lys | |
| ENST00000377572.5:c.565C>A | ENSP00000366795.1:p.Gln189Lys | |
| ENST00000377574.5:c.889C>A | ENSP00000366797.1:p.Gln297Lys | |
| ENST00000473690.5:c.226C>A | ENSP00000438437.1:p.Gln76Lys | |
| NM_001276326.1:c.787C>A | NP_001263255.1:p.Gln263Lys | |
| NM_001276327.1:c.565C>A | NP_001263256.1:p.Gln189Lys | |
| NM_144585.3:c.889C>A | NP_653186.2:p.Gln297Lys | |
| NM_153378.2:c.226C>A | NP_700357.1:p.Gln76Lys | |
| XM_006718430.2:c.964C>A | XP_006718493.1:p.Gln322Lys | |
| XM_006718431.2:c.859C>A | XP_006718494.1:p.Gln287Lys | |
| XM_006718430.4:c.964C>A | XP_006718493.1:p.Gln322Lys | |
| XM_006718431.4:c.859C>A | XP_006718494.1:p.Gln287Lys | |
| NM_144585.4:c.889C>A MANE Select | NP_653186.2:p.Gln297Lys | |
| NM_001276326.2:c.787C>A | NP_001263255.1:p.Gln263Lys | |
| NM_153378.3:c.226C>A | NP_700357.1:p.Gln76Lys | |
| NM_001276327.2:c.565C>A | NP_001263256.1:p.Gln189Lys |