Revel Score:
ENST00000366599
0.429
ENST00000366600 (MANE Select)
0.429
ENST00000313984
0.429
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001062 (AFR)
Genomes Max Group AF
0.00000798 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235470869C>G , CM000663.2:g.235470869C>G | GRCh38 |
| NC_000001.10:g.235634183C>G , CM000663.1:g.235634183C>G | GRCh37 |
| NC_000001.9:g.233700806C>G | NCBI36 |
| NG_033219.2:g.38613G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366600.8:c.743G>C MANE Select | ENSP00000355559.3:p.Gly248Ala | |
| ENST00000477694.6:n.1131G>C | ||
| ENST00000675193.1:c.866G>C | ENSP00000502069.1:p.Gly289Ala | |
| ENST00000675555.1:c.521G>C | ENSP00000501896.1:p.Gly174Ala | |
| ENST00000676288.1:c.866G>C | ENSP00000502392.1:p.Gly289Ala | |
| ENST00000313984.3:c.866G>C | ENSP00000315678.3:p.Gly289Ala | |
| ENST00000366600.7:c.743G>C | ENSP00000355559.3:p.Gly248Ala | |
| ENST00000462374.1:n.62G>C | ||
| ENST00000612859.4:c.*363G>C | ENSP00000481548.1:n.*363G>C | |
| NM_001277155.2:c.866G>C | NP_001264084.1:p.Gly289Ala | |
| NM_152490.4:c.743G>C | NP_689703.1:p.Gly248Ala | |
| XM_005273071.3:c.743G>C | XP_005273128.1:p.Gly248Ala | |
| XM_006711749.2:c.743G>C | XP_006711812.1:p.Gly248Ala | |
| XM_011544096.1:c.743G>C | XP_011542398.1:p.Gly248Ala | |
| XM_011544097.1:c.743G>C | XP_011542399.1:p.Gly248Ala | |
| XM_006711749.3:c.743G>C | XP_006711812.1:p.Gly248Ala | |
| XM_017000394.1:c.866G>C | XP_016855883.1:p.Gly289Ala | |
| XM_017000395.1:c.866G>C | XP_016855884.1:p.Gly289Ala | |
| XR_001736987.1:n.1031G>C | ||
| XR_001736988.1:n.1031G>C | ||
| XR_001736989.1:n.1031G>C | ||
| XR_001736990.1:n.914G>C | ||
| NM_152490.5:c.743G>C MANE Select | NP_689703.1:p.Gly248Ala | |
| NM_001277155.3:c.866G>C | NP_001264084.1:p.Gly289Ala |