Revel Score:
ENST00000269143 (MANE Select)
0.822
ENST00000537174
0.822
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12353028T>G , CM000680.2:g.12353028T>G | GRCh38 |
| NC_000018.9:g.12353027T>G , CM000680.1:g.12353027T>G | GRCh37 |
| NC_000018.8:g.12343027T>G | NCBI36 |
| NG_023361.1:g.29249A>C , LRG_666:g.29249A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*891A>C | ENSP00000508998.1:n.*891A>C | |
| ENST00000688199.1:c.1157A>C | ENSP00000510237.1:p.Asn386Thr | |
| ENST00000691179.1:c.1220A>C | ENSP00000509010.1:p.Asn407Thr | |
| ENST00000691970.1:c.*672A>C | ENSP00000508440.1:n.*672A>C | |
| ENST00000692497.1:c.1295A>C | ENSP00000509870.1:p.Asn432Thr | |
| ENST00000692988.1:n.1113A>C | ||
| ENST00000269143.8:c.1295A>C MANE Select | ENSP00000269143.2:p.Asn432Thr | |
| ENST00000269143.7:c.1295A>C | ENSP00000269143.2:p.Asn432Thr | |
| NM_006796.2:c.1295A>C , LRG_666t1:c.1295A>C | NP_006787.2:p.Asn432Thr | |
| XM_011525601.1:c.1295A>C | XP_011523903.1:p.Asn432Thr | |
| XM_011525601.3:c.1295A>C | XP_011523903.1:p.Asn432Thr | |
| NM_006796.3:c.1295A>C MANE Select | NP_006787.2:p.Asn432Thr |