gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72576287 (SAS)
Genomes Max Group AF
0.72576287 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.9119037T>G , CM000680.2:g.9119037T>G | GRCh38 |
| NC_000018.9:g.9119035T>G , CM000680.1:g.9119035T>G | GRCh37 |
| NC_000018.8:g.9109035T>G | NCBI36 |
| NG_013355.1:g.21408T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318388.11:c.121-289T>G MANE Select | ENSP00000327268.6:n.121-289T>G | |
| ENST00000318388.10:c.121-289T>G | ENSP00000327268.6:n.121-289T>G | |
| ENST00000400033.1:c.130-289T>G | ENSP00000382908.1:n.130-289T>G | |
| ENST00000474350.5:n.518-289T>G | ||
| ENST00000483511.1:n.180-289T>G | ||
| NM_021074.4:c.121-289T>G | NP_066552.2:n.121-289T>G | |
| XR_243808.1:n.223-289T>G | ||
| XM_017025782.1:c.34-289T>G | XP_016881271.1:n.34-289T>G | |
| XR_002958175.1:n.223-289T>G | ||
| XR_243808.3:n.138-289T>G | ||
| NM_021074.5:c.121-289T>G MANE Select | NP_066552.2:n.121-289T>G |