gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149010294C>T , CM000667.2:g.149010294C>T | GRCh38 |
| NC_000005.9:g.148389857C>T , CM000667.1:g.148389857C>T | GRCh37 |
| NC_000005.8:g.148370050C>T | NCBI36 |
| NG_007947.2:g.57881G>A , LRG_269:g.57881G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.3199G>A | ||
| ENST00000515425.6:c.3303G>A MANE Select | ENSP00000423660.1:p.Arg1101= | |
| ENST00000675793.1:c.*2587G>A | ENSP00000502039.1:n.*2587G>A | |
| ENST00000323829.9:c.*2691G>A | ENSP00000313025.5:n.*2691G>A | |
| ENST00000504517.5:c.2833G>A | ENSP00000421779.1:n.2833G>A | |
| ENST00000504690.5:c.3303G>A | ENSP00000425627.1:p.Arg1101= | |
| ENST00000510779.1:c.2353G>A | ||
| ENST00000512049.5:c.3282G>A | ENSP00000421860.1:p.Arg1094= | |
| ENST00000515425.5:c.3303G>A | ENSP00000423660.1:p.Arg1101= | |
| NM_024577.3:c.3303G>A , LRG_269t1:c.3303G>A | NP_078853.2:p.Arg1101= | |
| NM_024577.4:c.3303G>A MANE Select | NP_078853.2:p.Arg1101= |