Revel Score:
ENST00000234739 (MANE Select)
0.090
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147620166C>G , CM000663.2:g.147620166C>G | GRCh38 |
| NC_000001.10:g.147091972C>G , CM000663.1:g.147091972C>G | GRCh37 |
| NC_000001.9:g.145558596C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683836.1:c.2011C>G | ENSP00000506908.1:p.Pro671Ala | |
| ENST00000684121.1:c.1789C>G | ENSP00000507238.1:p.Pro597Ala | |
| ENST00000234739.8:c.2011C>G MANE Select | ENSP00000234739.3:p.Pro671Ala | |
| ENST00000234739.7:c.2011C>G | ENSP00000234739.3:p.Pro671Ala | |
| ENST00000622552.4:c.2011C>G | ENSP00000479694.1:p.Pro671Ala | |
| NM_004326.3:c.2011C>G | NP_004317.2:p.Pro671Ala | |
| XM_005272971.3:c.2011C>G | XP_005273028.1:p.Pro671Ala | |
| XM_005277417.2:c.2011C>G | XP_005277474.1:p.Pro671Ala | |
| XM_005277418.2:c.1789C>G | XP_005277475.1:p.Pro597Ala | |
| XM_006711483.2:c.2011C>G | XP_006711546.1:p.Pro671Ala | |
| XM_005272971.4:c.2011C>G | XP_005273028.1:p.Pro671Ala | |
| XM_005277417.4:c.2011C>G | XP_005277474.1:p.Pro671Ala | |
| XM_005277418.4:c.1789C>G | XP_005277475.1:p.Pro597Ala | |
| XM_017002026.1:c.1789C>G | XP_016857515.1:p.Pro597Ala | |
| NM_004326.4:c.2011C>G MANE Select | NP_004317.2:p.Pro671Ala |