Revel Score:
ENST00000358273 (MANE Select)
0.772
ENST00000356175
0.772
ENST00000456735
0.772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31335031G>C , CM000679.2:g.31335031G>C | GRCh38 |
| NC_000017.10:g.29662049G>C , CM000679.1:g.29662049G>C | GRCh37 |
| NC_000017.9:g.26686175G>C | NCBI36 |
| NG_009018.1:g.245055G>C , LRG_214:g.245055G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.2194G>C | ENSP00000492721.2:n.2194G>C | |
| ENST00000696138.1:c.5988G>C | ENSP00000512431.1:p.Gln1996His | |
| ENST00000684826.1:c.570G>C | ENSP00000509994.1:p.Gln190His | |
| ENST00000687027.1:c.162G>C | ENSP00000508715.1:p.Gln54His | |
| ENST00000687863.1:n.2651G>C | ||
| ENST00000691014.1:c.6036G>C | ENSP00000510595.1:p.Gln2012His | |
| ENST00000693617.1:c.570G>C | ENSP00000510031.1:p.Gln190His | |
| ENST00000358273.9:c.6006G>C MANE Select | ENSP00000351015.4:p.Gln2002His | |
| ENST00000356175.7:c.5943G>C | ENSP00000348498.3:p.Gln1981His | |
| ENST00000358273.8:c.6006G>C | ENSP00000351015.4:p.Gln2002His | |
| ENST00000456735.6:c.4941G>C | ENSP00000389907.2:p.Gln1647His | |
| ENST00000479536.2:c.431G>C | ||
| ENST00000579081.5:c.6142G>C | ENSP00000462408.1:n.6142G>C | |
| ENST00000581113.6:n.1323G>C | ||
| NM_000267.3:c.5943G>C , LRG_214t1:c.5943G>C | NP_000258.1:p.Gln1981His | |
| NM_001042492.2:c.6006G>C , LRG_214t2:c.6006G>C | NP_001035957.1:p.Gln2002His | |
| XM_005257983.1:c.6006G>C | XP_005258040.1:p.Gln2002His | |
| XM_005257984.1:c.5943G>C | XP_005258041.1:p.Gln1981His | |
| XM_006721922.1:c.6036G>C | XP_006721985.1:p.Gln2012His | |
| XM_006721923.2:c.5997G>C | XP_006721986.1:p.Gln1999His | |
| XM_006721924.1:c.6036G>C | XP_006721987.1:p.Gln2012His | |
| XM_006721925.1:c.5973G>C | XP_006721988.1:p.Gln1991His | |
| XM_006721926.2:c.6036G>C | XP_006721989.1:p.Gln2012His | |
| XM_006721927.1:c.6036G>C | XP_006721990.1:p.Gln2012His | |
| XM_011524852.1:c.6033G>C | XP_011523154.1:p.Gln2011His | |
| XM_011524853.1:c.5997G>C | XP_011523155.1:p.Gln1999His | |
| XM_011524854.1:c.5997G>C | XP_011523156.1:p.Gln1999His | |
| XM_011524855.1:c.5997G>C | XP_011523157.1:p.Gln1999His | |
| XM_011524856.1:c.5997G>C | XP_011523158.1:p.Gln1999His | |
| XM_011524857.1:c.6036G>C | XP_011523159.1:p.Gln2012His | |
| NM_001042492.3:c.6006G>C MANE Select | NP_001035957.1:p.Gln2002His |