Revel Score:
ENST00000295754 (MANE Select)
0.798
ENST00000359013
0.798
ENST00000439925
0.798
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30688470C>G , CM000665.2:g.30688470C>G | GRCh38 |
| NC_000003.11:g.30729962C>G , CM000665.1:g.30729962C>G | GRCh37 |
| NC_000003.10:g.30704966C>G | NCBI36 |
| NG_007490.1:g.86969C>G , LRG_779:g.86969C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1483C>G MANE Select | ENSP00000295754.5:p.Arg495Gly | |
| ENST00000672050.1:n.367C>G | ||
| ENST00000672866.1:n.3079C>G | ||
| ENST00000673203.1:n.361C>G | ||
| ENST00000295754.9:c.1483C>G | ENSP00000295754.5:p.Arg495Gly | |
| ENST00000359013.4:c.1558C>G | ENSP00000351905.4:p.Arg520Gly | |
| NM_001024847.2:c.1558C>G , LRG_779t1:c.1558C>G | NP_001020018.1:p.Arg520Gly | |
| NM_003242.5:c.1483C>G | NP_003233.4:p.Arg495Gly | |
| XM_011534043.1:c.1510C>G | XP_011532345.1:p.Arg504Gly | |
| XM_011534044.1:c.1435C>G | XP_011532346.1:p.Arg479Gly | |
| XM_011534045.1:c.1378C>G | XP_011532347.1:p.Arg460Gly | |
| XM_011534043.2:c.1510C>G | XP_011532345.1:p.Arg504Gly | |
| XM_011534045.3:c.1378C>G | XP_011532347.1:p.Arg460Gly | |
| XM_017007106.1:c.1378C>G | XP_016862595.1:p.Arg460Gly | |
| NM_003242.6:c.1483C>G MANE Select | NP_003233.4:p.Arg495Gly |