gnomAD v4:
Joint Max Group AF
0.00001364 (AMR)
Exomes Max Group AF
0.00001847 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214978739T>C , CM000664.2:g.214978739T>C | GRCh38 |
| NC_000002.11:g.215843463T>C , CM000664.1:g.215843463T>C | GRCh37 |
| NC_000002.10:g.215551708T>C | NCBI36 |
| NG_007074.1:g.164689A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.4977+65A>G MANE Select | ENSP00000272895.7:n.4977+65A>G | |
| ENST00000272895.11:c.4977+65A>G | ENSP00000272895.7:n.4977+65A>G | |
| ENST00000389661.4:c.4023+65A>G | ENSP00000374312.4:n.4023+65A>G | |
| NM_015657.3:c.4023+65A>G | NP_056472.2:n.4023+65A>G | |
| NM_173076.2:c.4977+65A>G | NP_775099.2:n.4977+65A>G | |
| NR_103740.1:n.5277+65A>G | ||
| XM_011510951.1:c.4986+65A>G | XP_011509253.1:n.4986+65A>G | |
| XM_011510952.1:c.4986+65A>G | XP_011509254.1:n.4986+65A>G | |
| XM_011510951.2:c.4986+65A>G | XP_011509253.1:n.4986+65A>G | |
| NM_173076.3:c.4977+65A>G MANE Select | NP_775099.2:n.4977+65A>G | |
| NR_103740.2:n.5475+65A>G | ||
| NM_015657.4:c.4023+65A>G | NP_056472.2:n.4023+65A>G |