MyVariant.info:
GRCh37
chr3:g.30729962C>A
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30688470C>A , CM000665.2:g.30688470C>A | GRCh38 |
| NC_000003.11:g.30729962C>A , CM000665.1:g.30729962C>A | GRCh37 |
| NC_000003.10:g.30704966C>A | NCBI36 |
| NG_007490.1:g.86969C>A , LRG_779:g.86969C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1483C>A MANE Select | ENSP00000295754.5:p.Arg495= | |
| ENST00000672050.1:n.367C>A | ||
| ENST00000672866.1:n.3079C>A | ||
| ENST00000673203.1:n.361C>A | ||
| ENST00000295754.9:c.1483C>A | ENSP00000295754.5:p.Arg495= | |
| ENST00000359013.4:c.1558C>A | ENSP00000351905.4:p.Arg520= | |
| NM_001024847.2:c.1558C>A , LRG_779t1:c.1558C>A | NP_001020018.1:p.Arg520= | |
| NM_003242.5:c.1483C>A | NP_003233.4:p.Arg495= | |
| XM_011534043.1:c.1510C>A | XP_011532345.1:p.Arg504= | |
| XM_011534044.1:c.1435C>A | XP_011532346.1:p.Arg479= | |
| XM_011534045.1:c.1378C>A | XP_011532347.1:p.Arg460= | |
| XM_011534043.2:c.1510C>A | XP_011532345.1:p.Arg504= | |
| XM_011534045.3:c.1378C>A | XP_011532347.1:p.Arg460= | |
| XM_017007106.1:c.1378C>A | XP_016862595.1:p.Arg460= | |
| NM_003242.6:c.1483C>A MANE Select | NP_003233.4:p.Arg495= |