gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101429755C>T , CM000671.2:g.101429755C>T | GRCh38 |
| NC_000009.11:g.104192037C>T , CM000671.1:g.104192037C>T | GRCh37 |
| NC_000009.10:g.103231858C>T | NCBI36 |
| NG_012387.1:g.11026G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.324G>A MANE Select | ENSP00000497767.1:p.Lys108= | |
| ENST00000648064.1:c.324G>A | ENSP00000497990.1:p.Lys108= | |
| ENST00000648758.1:c.324G>A | ENSP00000497731.1:p.Lys108= | |
| ENST00000648906.1:n.494G>A | ||
| ENST00000649902.1:c.324G>A | ENSP00000497216.1:p.Lys108= | |
| ENST00000650613.1:n.400G>A | ||
| ENST00000374855.8:c.324G>A | ENSP00000363988.4:p.Lys108= | |
| ENST00000468981.3:n.67+54G>A | ||
| ENST00000616752.1:c.324G>A | ENSP00000481363.1:p.Lys108= | |
| NM_000035.3:c.324G>A | NP_000026.2:p.Lys108= | |
| NM_000035.4:c.324G>A MANE Select | NP_000026.2:p.Lys108= |