Revel Score:
ENST00000225964 (MANE Select)
0.861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185506A>G , CM000679.2:g.50185506A>G | GRCh38 |
| NC_000017.10:g.48262867A>G , CM000679.1:g.48262867A>G | GRCh37 |
| NC_000017.9:g.45617866A>G | NCBI36 |
| NG_007400.1:g.21134T>C , LRG_1:g.21134T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4391T>C MANE Select | ENSP00000225964.6:p.Leu1464Pro | |
| ENST00000225964.9:c.4391T>C | ENSP00000225964.5:p.Leu1464Pro | |
| NM_000088.3:c.4391T>C , LRG_1t1:c.4391T>C | NP_000079.2:p.Leu1464Pro | |
| XM_005257058.3:c.4121T>C | XP_005257115.2:p.Leu1374Pro | |
| XM_005257059.3:c.3473T>C | XP_005257116.2:p.Leu1158Pro | |
| XM_011524341.1:c.4193T>C | XP_011522643.1:p.Leu1398Pro | |
| XM_005257058.4:c.4121T>C | XP_005257115.2:p.Leu1374Pro | |
| XM_005257059.4:c.3473T>C | XP_005257116.2:p.Leu1158Pro | |
| NM_000088.4:c.4391T>C MANE Select | NP_000079.2:p.Leu1464Pro |