Revel Score:
ENST00000202917 (MANE Select)
0.011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112919433G>C , CM000674.2:g.112919433G>C | GRCh38 |
| NC_000012.11:g.113357238G>C , CM000674.1:g.113357238G>C | GRCh37 |
| NC_000012.10:g.111841621G>C | NCBI36 |
| NG_011530.1:g.17500G>C | |
| NG_011530.2:g.17500G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000202917.10:c.1083G>C MANE Select | ENSP00000202917.5:p.Arg361Ser | |
| ENST00000445409.7:c.1039-54G>C | ENSP00000388001.2:n.1039-54G>C | |
| ENST00000452357.7:c.*1676G>C | ENSP00000415721.2:n.*1676G>C | |
| ENST00000540589.3:c.1039-54G>C | ENSP00000474083.2:n.1039-54G>C | |
| ENST00000549820.2:n.1958G>C | ||
| ENST00000550883.2:c.*2658G>C | ENSP00000450286.2:n.*2658G>C | |
| ENST00000551241.6:c.1038+1733G>C | ENSP00000448790.1:n.1038+1733G>C | |
| ENST00000552526.2:c.1082+1G>C | ENSP00000475139.2:n.1082+1G>C | |
| ENST00000553152.2:c.*720G>C | ENSP00000449053.2:n.*720G>C | |
| ENST00000679413.1:n.3301G>C | ||
| ENST00000679467.1:c.1098G>C | ENSP00000506593.1:p.Arg366Ser | |
| ENST00000679494.1:c.929G>C | ENSP00000505090.1:p.Gly310Ala | |
| ENST00000679767.1:c.*424G>C | ENSP00000505476.1:n.*424G>C | |
| ENST00000679971.1:c.565-54G>C | ENSP00000505786.1:n.565-54G>C | |
| ENST00000679987.1:c.1104G>C | ENSP00000504970.1:p.Arg368Ser | |
| ENST00000680189.1:c.1083G>C | ENSP00000505572.1:p.Arg361Ser | |
| ENST00000680455.1:c.609G>C | ENSP00000505165.1:p.Arg203Ser | |
| ENST00000680522.1:c.*592G>C | ENSP00000506485.1:n.*592G>C | |
| ENST00000680659.1:c.*71G>C | ENSP00000504942.1:n.*71G>C | |
| ENST00000680919.1:c.*377G>C | ENSP00000506474.1:n.*377G>C | |
| ENST00000680934.1:c.885-54G>C | ENSP00000505028.1:n.885-54G>C | |
| ENST00000681228.1:c.996G>C | ENSP00000505703.1:p.Arg332Ser | |
| ENST00000681436.1:n.7070G>C | ||
| ENST00000681505.1:c.*424G>C | ENSP00000505794.1:n.*424G>C | |
| ENST00000681700.1:c.1059G>C | ENSP00000506580.1:p.Arg353Ser | |
| ENST00000681934.1:c.1083G>C | ENSP00000505482.1:p.Arg361Ser | |
| ENST00000202917.9:c.1083G>C | ENSP00000202917.5:p.Arg361Ser | |
| ENST00000445409.6:c.1039-54G>C | ENSP00000388001.2:n.1039-54G>C | |
| ENST00000551241.5:c.1038+1733G>C | ENSP00000448790.1:n.1038+1733G>C | |
| ENST00000552526.1:c.44+1G>C | ENSP00000475139.1:n.44+1G>C | |
| NM_001032409.1:c.1039-54G>C | NP_001027581.1:n.1039-54G>C | |
| NM_016816.2:c.1083G>C | NP_058132.2:p.Arg361Ser | |
| XM_006719434.1:c.*720G>C | XP_006719497.1:n.*720G>C | |
| XM_011538413.1:c.1015-54G>C | XP_011536715.1:n.1015-54G>C | |
| XM_011538414.1:c.1038+1733G>C | XP_011536716.1:n.1038+1733G>C | |
| XR_944557.1:n.1126G>C | ||
| NM_001032409.2:c.1039-54G>C | NP_001027581.1:n.1039-54G>C | |
| NM_001320151.1:c.1038+1733G>C | NP_001307080.1:n.1038+1733G>C | |
| NM_016816.3:c.1083G>C | NP_058132.2:p.Arg361Ser | |
| XM_006719434.2:c.*720G>C | XP_006719497.1:n.*720G>C | |
| XM_011538413.2:c.1015-54G>C | XP_011536715.1:n.1015-54G>C | |
| XM_017019361.2:c.1059G>C | XP_016874850.1:p.Arg353Ser | |
| XM_017019362.1:c.594G>C | XP_016874851.1:p.Arg198Ser | |
| NM_016816.4:c.1083G>C MANE Select | NP_058132.2:p.Arg361Ser | |
| NM_001032409.3:c.1039-54G>C | NP_001027581.1:n.1039-54G>C | |
| NM_001320151.2:c.1038+1733G>C | NP_001307080.1:n.1038+1733G>C |