Revel Score:
ENST00000353145
0.118
ENST00000456252
0.118
ENST00000303088 (MANE Select)
0.118
ENST00000407360
0.118
ENST00000392324
0.118
ENST00000544923
0.118
ENST00000536253
0.027
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00041098 (NFE)
Genomes Max Group AF
0.00020666 (NFE)
Exomes Max Group AF
0.00041721 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19201662C>G , CM000681.2:g.19201662C>G | GRCh38 |
| NC_000019.9:g.19312471C>G , CM000681.1:g.19312471C>G | GRCh37 |
| NC_000019.8:g.19173471C>G | NCBI36 |
| NG_007432.1:g.14464C>G , LRG_102:g.14464C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303088.9:c.726C>G (RFXANK) MANE Select | ENSP00000305071.2:p.Ile242Met | |
| ENST00000331552.12:c.*263G>C (NR2C2AP) MANE Select | ENSP00000332823.6:n.*263G>C | |
| ENST00000303088.8:c.726C>G (RFXANK) | ENSP00000305071.2:p.Ile242Met | |
| ENST00000331552.11:c.*263G>C (NR2C2AP) | ENSP00000332823.5:n.*263G>C | |
| ENST00000392324.8:c.657C>G (RFXANK) | ENSP00000376138.3:p.Ile219Met | |
| ENST00000407360.7:c.726C>G (RFXANK) | ENSP00000384572.3:p.Ile242Met | |
| ENST00000420605.7:c.415-99G>C (NR2C2AP) | ENSP00000402756.1:n.415-99G>C | |
| ENST00000456252.7:c.660C>G (RFXANK) | ENSP00000409138.2:p.Ile220Met | |
| ENST00000536253.1:c.170C>G (RFXANK) | ENSP00000440321.2:n.170C>G | |
| ENST00000537399.1:n.1329G>C (NR2C2AP) | ||
| ENST00000540977.1:n.182C>G (RFXANK) | ||
| ENST00000544883.5:c.*412G>C (NR2C2AP) | ENSP00000438092.1:n.*412G>C | |
| ENST00000544923.5:c.87C>G (RFXANK) | ENSP00000441042.1:p.Ile29Met | |
| NM_001278727.1:c.660C>G (RFXANK) | NP_001265656.1:p.Ile220Met | |
| NM_001278728.1:c.657C>G (RFXANK) | NP_001265657.1:p.Ile219Met | |
| NM_001300945.1:c.415-99G>C (NR2C2AP) | NP_001287874.1:n.415-99G>C | |
| NM_003721.3:c.726C>G (RFXANK) | NP_003712.1:p.Ile242Met | |
| NM_134440.2:c.657C>G (RFXANK) | NP_604389.1:p.Ile219Met | |
| NM_176880.5:c.*263G>C (NR2C2AP) | NP_795361.1:n.*263G>C | |
| XM_005260134.3:c.726C>G (RFXANK) | XP_005260191.1:p.Ile242Met | |
| XM_005260135.2:c.726C>G (RFXANK) | XP_005260192.1:p.Ile242Met | |
| XM_005260136.3:c.723C>G (RFXANK) | XP_005260193.1:p.Ile241Met | |
| XM_005260137.3:c.723C>G (RFXANK) | XP_005260194.1:p.Ile241Met | |
| XM_006722930.2:c.723C>G (RFXANK) | XP_006722993.1:p.Ile241Met | |
| XM_011527688.1:c.421-99G>C (NR2C2AP) | XP_011525990.1:n.421-99G>C | |
| XM_005260134.5:c.726C>G (RFXANK) | XP_005260191.1:p.Ile242Met | |
| XM_005260135.3:c.726C>G (RFXANK) | XP_005260192.1:p.Ile242Met | |
| XM_005260136.5:c.723C>G (RFXANK) | XP_005260193.1:p.Ile241Met | |
| XM_005260137.4:c.723C>G (RFXANK) | XP_005260194.1:p.Ile241Met | |
| XM_006722930.4:c.723C>G (RFXANK) | XP_006722993.1:p.Ile241Met | |
| XM_011527688.3:c.421-99G>C (NR2C2AP) | XP_011525990.1:n.421-99G>C | |
| XM_017027415.1:c.726C>G (RFXANK) | XP_016882904.1:p.Ile242Met | |
| XM_017027416.1:c.660C>G (RFXANK) | XP_016882905.1:p.Ile220Met | |
| NM_003721.4:c.726C>G (RFXANK) MANE Select | NP_003712.1:p.Ile242Met | |
| NM_001300945.2:c.415-99G>C (NR2C2AP) | NP_001287874.1:n.415-99G>C | |
| NM_001370233.1:c.726C>G (RFXANK) | NP_001357162.1:p.Ile242Met | |
| NM_001370234.1:c.660C>G (RFXANK) | NP_001357163.1:p.Ile220Met | |
| NM_001370235.1:c.723C>G (RFXANK) | NP_001357164.1:p.Ile241Met | |
| NM_001370236.1:c.723C>G (RFXANK) | NP_001357165.1:p.Ile241Met | |
| NM_001370237.1:c.798C>G (RFXANK) | NP_001357166.1:p.Ile266Met | |
| NM_001370238.1:c.801C>G (RFXANK) | NP_001357167.1:p.Ile267Met | |
| NM_176880.6:c.*263G>C (NR2C2AP) MANE Select | NP_795361.1:n.*263G>C | |
| NM_001278727.2:c.660C>G (RFXANK) | NP_001265656.1:p.Ile220Met | |
| NM_001278728.2:c.657C>G (RFXANK) | NP_001265657.1:p.Ile219Met | |
| NM_134440.3:c.657C>G (RFXANK) | NP_604389.1:p.Ile219Met |