Revel Score:
ENST00000225964 (MANE Select)
0.840
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50201479A>C , CM000679.2:g.50201479A>C | GRCh38 |
| NC_000017.10:g.48278840A>C , CM000679.1:g.48278840A>C | GRCh37 |
| NC_000017.9:g.45633839A>C | NCBI36 |
| NG_007400.1:g.5161T>G , LRG_1:g.5161T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.35T>G MANE Select | ENSP00000225964.6:p.Leu12Arg | |
| ENST00000225964.9:c.35T>G | ENSP00000225964.5:p.Leu12Arg | |
| ENST00000474644.1:n.154T>G | ||
| NM_000088.3:c.35T>G , LRG_1t1:c.35T>G | NP_000079.2:p.Leu12Arg | |
| XM_005257058.3:c.35T>G | XP_005257115.2:p.Leu12Arg | |
| XM_005257059.3:c.35T>G | XP_005257116.2:p.Leu12Arg | |
| XM_011524341.1:c.35T>G | XP_011522643.1:p.Leu12Arg | |
| XM_005257058.4:c.35T>G | XP_005257115.2:p.Leu12Arg | |
| XM_005257059.4:c.35T>G | XP_005257116.2:p.Leu12Arg | |
| NM_000088.4:c.35T>G MANE Select | NP_000079.2:p.Leu12Arg |