Revel Score:
ENST00000419671
0.103
ENST00000322507 (MANE Select)
0.395
ENST00000432784
0.395
ENST00000345356
0.395
ENST00000416123
0.395
ENST00000483888
0.395
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006641 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
Exomes Max Group AF
0.00006697 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75133935G>A , CM000668.2:g.75133935G>A | GRCh38 |
| NC_000006.11:g.75843651G>A , CM000668.1:g.75843651G>A | GRCh37 |
| NC_000006.10:g.75900371G>A | NCBI36 |
| NG_042181.1:g.76973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.5587C>T MANE Select | ENSP00000325146.8:p.Arg1863Cys | |
| ENST00000322507.12:c.5587C>T | ENSP00000325146.8:p.Arg1863Cys | |
| ENST00000345356.10:c.2095C>T | ENSP00000305147.9:p.Arg699Cys | |
| ENST00000416123.6:c.5587C>T | ENSP00000412864.2:p.Arg1863Cys | |
| ENST00000419671.1:c.1790C>T | ||
| ENST00000483888.6:c.5587C>T | ENSP00000421216.1:p.Arg1863Cys | |
| ENST00000615798.4:c.2020C>T | ENSP00000483232.1:p.Arg674Cys | |
| NM_004370.5:c.5587C>T | NP_004361.3:p.Arg1863Cys | |
| NM_080645.2:c.2095C>T | NP_542376.2:p.Arg699Cys | |
| XM_011535434.1:c.5587C>T | XP_011533736.1:p.Arg1863Cys | |
| XM_011535435.1:c.5314C>T | XP_011533737.1:p.Arg1772Cys | |
| XM_011535436.1:c.2095C>T | XP_011533738.1:p.Arg699Cys | |
| XM_011535436.2:c.2095C>T | XP_011533738.1:p.Arg699Cys | |
| XM_017010252.2:c.5551C>T | XP_016865741.1:p.Arg1851Cys | |
| NM_004370.6:c.5587C>T MANE Select | NP_004361.3:p.Arg1863Cys | |
| NM_080645.3:c.2095C>T | NP_542376.2:p.Arg699Cys |