Revel Score:
ENST00000367698 (MANE Select)
0.912
ENST00000351522
0.912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903969G>C , CM000663.2:g.173903969G>C | GRCh38 |
| NC_000001.10:g.173873107G>C , CM000663.1:g.173873107G>C | GRCh37 |
| NC_000001.9:g.172139730G>C | NCBI36 |
| NG_012462.1:g.18410C>G , LRG_577:g.18410C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1315C>G MANE Select | ENSP00000356671.3:p.Pro439Ala | |
| ENST00000367698.3:c.1315C>G | ENSP00000356671.3:p.Pro439Ala | |
| ENST00000617423.4:c.700C>G | ENSP00000478688.1:p.Pro234Ala | |
| NM_000488.3:c.1315C>G , LRG_577t1:c.1315C>G | NP_000479.1:p.Pro439Ala | |
| XM_005245198.2:c.1171C>G | XP_005245255.1:p.Pro391Ala | |
| NM_001365052.1:c.1171C>G | NP_001351981.1:p.Pro391Ala | |
| NM_000488.4:c.1315C>G MANE Select | NP_000479.1:p.Pro439Ala | |
| NM_001365052.2:c.1171C>G | NP_001351981.1:p.Pro391Ala | |
| NM_001386302.1:c.1438C>G | NP_001373231.1:p.Pro480Ala | |
| NM_001386303.1:c.1396C>G | NP_001373232.1:p.Pro466Ala | |
| NM_001386304.1:c.1294C>G | NP_001373233.1:p.Pro432Ala | |
| NM_001386305.1:c.1258C>G | NP_001373234.1:p.Pro420Ala | |
| NM_001386306.1:c.1099C>G | NP_001373235.1:p.Pro367Ala |