Revel Score:
ENST00000262077 (MANE Select)
0.028
ENST00000430136
0.028
ENST00000537253
0.028
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.17632830C>G , CM000668.2:g.17632830C>G | GRCh38 |
| NC_000006.11:g.17633061C>G , CM000668.1:g.17633061C>G | GRCh37 |
| NC_000006.10:g.17741040C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262077.3:c.2479G>C MANE Select | ENSP00000262077.3:p.Ala827Pro | |
| ENST00000262077.2:c.2479G>C | ENSP00000262077.2:p.Ala827Pro | |
| ENST00000537253.5:c.2572G>C | ENSP00000444029.1:p.Ala858Pro | |
| ENST00000613258.4:c.2353G>C | ENSP00000478627.1:p.Ala785Pro | |
| NM_001278209.1:c.2572G>C | NP_001265138.1:p.Ala858Pro | |
| NM_001278210.1:c.2353G>C | NP_001265139.1:p.Ala785Pro | |
| NM_005124.3:c.2479G>C | NP_005115.2:p.Ala827Pro | |
| XM_005249507.1:c.2425G>C | XP_005249564.1:p.Ala809Pro | |
| XM_006715290.1:c.2461G>C | XP_006715353.1:p.Ala821Pro | |
| XM_006715291.2:c.*26G>C | XP_006715354.1:n.*26G>C | |
| XM_011515028.1:c.2465-3291G>C | XP_011513330.1:n.2465-3291G>C | |
| XM_005249507.3:c.2425G>C | XP_005249564.1:p.Ala809Pro | |
| XM_006715290.3:c.2461G>C | XP_006715353.1:p.Ala821Pro | |
| XM_006715291.4:c.*26G>C | XP_006715354.1:n.*26G>C | |
| XM_011515028.3:c.2465-3291G>C | XP_011513330.1:n.2465-3291G>C | |
| XM_017011594.2:c.2407G>C | XP_016867083.1:p.Ala803Pro | |
| NM_005124.4:c.2479G>C MANE Select | NP_005115.2:p.Ala827Pro | |
| NM_001278209.2:c.2572G>C | NP_001265138.1:p.Ala858Pro | |
| NM_001278210.2:c.2353G>C | NP_001265139.1:p.Ala785Pro |