dbSNP:
Revel Score:
ENST00000252486 (MANE Select)
0.300
ENST00000446996
0.300
ENST00000434152
0.300
ENST00000425718
0.300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908645G>A , CM000681.2:g.44908645G>A | GRCh38 |
| NC_000019.9:g.45411902G>A , CM000681.1:g.45411902G>A | GRCh37 |
| NC_000019.8:g.50103742G>A | NCBI36 |
| NG_007084.2:g.7864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.349G>A MANE Select | ENSP00000252486.3:p.Ala117Thr | |
| ENST00000252486.8:c.349G>A | ENSP00000252486.3:p.Ala117Thr | |
| ENST00000425718.1:c.349G>A | ENSP00000410423.1:p.Ala117Thr | |
| ENST00000434152.5:c.427G>A | ENSP00000413653.2:p.Ala143Thr | |
| ENST00000446996.5:c.349G>A | ENSP00000413135.1:p.Ala117Thr | |
| NM_000041.3:c.349G>A | NP_000032.1:p.Ala117Thr | |
| NM_001302688.1:c.427G>A | NP_001289617.1:p.Ala143Thr | |
| NM_001302689.1:c.349G>A | NP_001289618.1:p.Ala117Thr | |
| NM_001302690.1:c.349G>A | NP_001289619.1:p.Ala117Thr | |
| NM_001302691.1:c.349G>A | NP_001289620.1:p.Ala117Thr | |
| NM_000041.4:c.349G>A MANE Select | NP_000032.1:p.Ala117Thr | |
| NM_001302688.2:c.427G>A | NP_001289617.1:p.Ala143Thr | |
| NM_001302689.2:c.349G>A | NP_001289618.1:p.Ala117Thr | |
| NM_001302691.2:c.349G>A | NP_001289620.1:p.Ala117Thr | |
| NM_001302690.2:c.349G>A | NP_001289619.1:p.Ala117Thr |