Revel Score:
ENST00000358273 (MANE Select)
0.676
ENST00000356175
0.676
ENST00000456735
0.676
ENST00000444181
0.676
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31338138A>G , CM000679.2:g.31338138A>G | GRCh38 |
| NC_000017.10:g.29665156A>G , CM000679.1:g.29665156A>G | GRCh37 |
| NC_000017.9:g.26689282A>G | NCBI36 |
| NG_009018.1:g.248162A>G , LRG_214:g.248162A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6800A>G | ENSP00000512431.1:p.Lys2267Arg | |
| ENST00000684826.1:c.1382A>G | ENSP00000509994.1:p.Lys461Arg | |
| ENST00000684998.1:n.2076A>G | ||
| ENST00000687027.1:c.974A>G | ENSP00000508715.1:p.Lys325Arg | |
| ENST00000687863.1:n.3463A>G | ||
| ENST00000691014.1:c.6848A>G | ENSP00000510595.1:p.Lys2283Arg | |
| ENST00000693617.1:c.1382A>G | ENSP00000510031.1:p.Lys461Arg | |
| ENST00000358273.9:c.6818A>G MANE Select | ENSP00000351015.4:p.Lys2273Arg | |
| ENST00000356175.7:c.6755A>G | ENSP00000348498.3:p.Lys2252Arg | |
| ENST00000358273.8:c.6818A>G | ENSP00000351015.4:p.Lys2273Arg | |
| ENST00000456735.6:c.5753A>G | ENSP00000389907.2:p.Lys1918Arg | |
| ENST00000471572.6:c.201A>G | ||
| ENST00000579081.5:c.6954A>G | ENSP00000462408.1:n.6954A>G | |
| ENST00000581790.5:c.64+258A>G | ||
| ENST00000584328.1:n.232A>G | ||
| NM_000267.3:c.6755A>G , LRG_214t1:c.6755A>G | NP_000258.1:p.Lys2252Arg | |
| NM_001042492.2:c.6818A>G , LRG_214t2:c.6818A>G | NP_001035957.1:p.Lys2273Arg | |
| XM_005257983.1:c.6818A>G | XP_005258040.1:p.Lys2273Arg | |
| XM_005257984.1:c.6755A>G | XP_005258041.1:p.Lys2252Arg | |
| XM_006721922.1:c.6848A>G | XP_006721985.1:p.Lys2283Arg | |
| XM_006721923.2:c.6809A>G | XP_006721986.1:p.Lys2270Arg | |
| XM_006721924.1:c.6848A>G | XP_006721987.1:p.Lys2283Arg | |
| XM_006721925.1:c.6785A>G | XP_006721988.1:p.Lys2262Arg | |
| XM_006721926.2:c.6848A>G | XP_006721989.1:p.Lys2283Arg | |
| XM_006721927.1:c.6848A>G | XP_006721990.1:p.Lys2283Arg | |
| XM_011524852.1:c.6845A>G | XP_011523154.1:p.Lys2282Arg | |
| XM_011524853.1:c.6809A>G | XP_011523155.1:p.Lys2270Arg | |
| XM_011524854.1:c.6809A>G | XP_011523156.1:p.Lys2270Arg | |
| XM_011524855.1:c.6809A>G | XP_011523157.1:p.Lys2270Arg | |
| XM_011524856.1:c.6809A>G | XP_011523158.1:p.Lys2270Arg | |
| XM_011524857.1:c.6848A>G | XP_011523159.1:p.Lys2283Arg | |
| NM_001042492.3:c.6818A>G MANE Select | NP_001035957.1:p.Lys2273Arg |