gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37755099A>G , CM000684.2:g.37755099A>G | GRCh38 |
| NC_000022.10:g.38151106A>G , CM000684.1:g.38151106A>G | GRCh37 |
| NC_000022.9:g.36481052A>G | NCBI36 |
| NG_012857.1:g.63112A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407319.7:c.349-2A>G | ENSP00000383913.2:n.349-2A>G | |
| ENST00000644935.1:c.5488-2A>G MANE Select | ENSP00000496394.1:n.5488-2A>G | |
| ENST00000331103.5:n.104-2A>G | ||
| ENST00000344404.10:c.*4971-2A>G | ENSP00000340312.6:n.*4971-2A>G | |
| ENST00000403663.6:c.349-2A>G | ENSP00000386026.2:n.349-2A>G | |
| ENST00000406386.7:c.5488-2A>G | ENSP00000384312.3:n.5488-2A>G | |
| ENST00000407319.6:c.349-2A>G | ENSP00000383913.2:n.349-2A>G | |
| ENST00000413051.2:c.354-2A>G | ENSP00000400680.2:n.354-2A>G | |
| ENST00000417857.1:c.136-2A>G | ENSP00000387881.1:n.136-2A>G | |
| ENST00000418339.5:c.226-2A>G | ENSP00000396946.1:n.226-2A>G | |
| ENST00000428075.5:c.209-2A>G | ||
| ENST00000452519.5:c.136-2A>G | ENSP00000407542.1:n.136-2A>G | |
| NM_001039141.2:c.5488-2A>G | NP_001034230.1:n.5488-2A>G | |
| NM_007032.5:c.349-2A>G | NP_008963.3:n.349-2A>G | |
| NM_138632.2:c.349-2A>G | NP_619538.2:n.349-2A>G | |
| NM_001039141.3:c.5488-2A>G MANE Select | NP_001034230.1:n.5488-2A>G |