Revel Score:
ENST00000330287
0.570
ENST00000360256 (MANE Select)
0.570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154863086T>G , CM000685.2:g.154863086T>G | GRCh38 |
| NC_000023.10:g.154091361T>G , CM000685.1:g.154091361T>G | GRCh37 |
| NC_000023.9:g.153744555T>G | NCBI36 |
| NG_011403.1:g.164638A>C | |
| NG_011403.2:g.164638A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6571A>C MANE Select | ENSP00000353393.4:p.Asn2191His | |
| ENST00000644698.1:c.304A>C | ENSP00000495706.1:p.Asn102His | |
| ENST00000330287.10:c.166A>C | ENSP00000327895.6:p.Asn56His | |
| ENST00000360256.8:c.6571A>C | ENSP00000353393.4:p.Asn2191His | |
| NM_000132.3:c.6571A>C | NP_000123.1:p.Asn2191His | |
| NM_019863.2:c.166A>C | NP_063916.1:p.Asn56His | |
| XM_011531126.1:c.6466A>C | XP_011529428.1:p.Asn2156His | |
| NM_000132.4:c.6571A>C MANE Select | NP_000123.1:p.Asn2191His | |
| NM_019863.3:c.166A>C | NP_063916.1:p.Asn56His |