gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001459 (AMR)
Genomes Max Group AF
0.00002262 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22731420T>C , CM000669.2:g.22731420T>C | GRCh38 |
| NC_000007.13:g.22771039T>C , CM000669.1:g.22771039T>C | GRCh37 |
| NC_000007.12:g.22737564T>C | NCBI36 |
| NG_011640.1:g.9274T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258743.10:c.486T>C MANE Select | ENSP00000258743.5:p.Asp162= | |
| ENST00000258743.9:c.486T>C | ENSP00000258743.5:p.Asp162= | |
| ENST00000401630.7:c.417T>C | ENSP00000384928.3:p.Asp139= | |
| ENST00000404625.5:c.486T>C | ENSP00000385675.1:p.Asp162= | |
| ENST00000407492.5:c.258T>C | ENSP00000385043.1:p.Asp86= | |
| ENST00000485300.1:n.711T>C | ||
| NM_000600.3:c.486T>C | NP_000591.1:p.Asp162= | |
| XM_011515390.1:c.486T>C | XP_011513692.1:p.Asp162= | |
| XM_011515391.1:c.258T>C | XP_011513693.1:p.Asp86= | |
| NM_000600.4:c.486T>C | NP_000591.1:p.Asp162= | |
| NM_001318095.1:c.258T>C | NP_001305024.1:p.Asp86= | |
| XM_011515390.2:c.486T>C | XP_011513692.1:p.Asp162= | |
| NM_000600.5:c.486T>C MANE Select | NP_000591.1:p.Asp162= | |
| NM_001318095.2:c.258T>C | NP_001305024.1:p.Asp86= | |
| NM_001371096.1:c.417T>C | NP_001358025.1:p.Asp139= |