gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001171 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.95537302T>C , CM000666.2:g.95537302T>C | GRCh38 |
| NC_000004.11:g.96458453T>C , CM000666.1:g.96458453T>C | GRCh37 |
| NC_000004.10:g.96677476T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453304.6:c.124+11432A>G MANE Select | ENSP00000406022.1:n.124+11432A>G | |
| ENST00000453304.5:c.124+11432A>G | ENSP00000406022.1:n.124+11432A>G | |
| ENST00000504962.1:c.124+11432A>G | ENSP00000425117.1:n.124+11432A>G | |
| ENST00000506749.5:c.124+11432A>G | ENSP00000426153.1:n.124+11432A>G | |
| ENST00000513796.5:c.124+11432A>G | ENSP00000426924.1:n.124+11432A>G | |
| NM_003728.3:c.124+11432A>G | NP_003719.3:n.124+11432A>G | |
| XM_005263321.2:c.124+11432A>G | XP_005263378.1:n.124+11432A>G | |
| XM_005263321.3:c.124+11432A>G | XP_005263378.1:n.124+11432A>G | |
| NM_003728.4:c.124+11432A>G MANE Select | NP_003719.3:n.124+11432A>G |