Revel Score:
ENST00000269143 (MANE Select)
0.795
ENST00000537174
0.795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12353028T>C , CM000680.2:g.12353028T>C | GRCh38 |
| NC_000018.9:g.12353027T>C , CM000680.1:g.12353027T>C | GRCh37 |
| NC_000018.8:g.12343027T>C | NCBI36 |
| NG_023361.1:g.29249A>G , LRG_666:g.29249A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*891A>G | ENSP00000508998.1:n.*891A>G | |
| ENST00000688199.1:c.1157A>G | ENSP00000510237.1:p.Asn386Ser | |
| ENST00000691179.1:c.1220A>G | ENSP00000509010.1:p.Asn407Ser | |
| ENST00000691970.1:c.*672A>G | ENSP00000508440.1:n.*672A>G | |
| ENST00000692497.1:c.1295A>G | ENSP00000509870.1:p.Asn432Ser | |
| ENST00000692988.1:n.1113A>G | ||
| ENST00000269143.8:c.1295A>G MANE Select | ENSP00000269143.2:p.Asn432Ser | |
| ENST00000269143.7:c.1295A>G | ENSP00000269143.2:p.Asn432Ser | |
| NM_006796.2:c.1295A>G , LRG_666t1:c.1295A>G | NP_006787.2:p.Asn432Ser | |
| XM_011525601.1:c.1295A>G | XP_011523903.1:p.Asn432Ser | |
| XM_011525601.3:c.1295A>G | XP_011523903.1:p.Asn432Ser | |
| NM_006796.3:c.1295A>G MANE Select | NP_006787.2:p.Asn432Ser |