gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81045208 (AFR)
Genomes Max Group AF
0.81045208 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.86906079C>T , CM000663.2:g.86906079C>T | GRCh38 |
| NC_000001.10:g.87371762C>T , CM000663.1:g.87371762C>T | GRCh37 |
| NC_000001.9:g.87144350C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331835.10:c.85-2631G>A MANE Select | ENSP00000328729.6:n.85-2631G>A | |
| ENST00000648872.1:c.85-2631G>A | ENSP00000497584.1:n.85-2631G>A | |
| ENST00000331835.9:c.85-2631G>A | ENSP00000328729.6:n.85-2631G>A | |
| ENST00000370554.5:c.85-2631G>A | ENSP00000359585.2:n.85-2631G>A | |
| ENST00000401030.4:c.85-2631G>A | ENSP00000383810.4:n.85-2631G>A | |
| ENST00000467557.1:c.261-2631G>A | ||
| ENST00000469566.5:n.111-2631G>A | ||
| ENST00000611507.4:c.85-2631G>A | ENSP00000481113.1:n.85-2631G>A | |
| ENST00000616787.4:c.85-2631G>A | ENSP00000484190.1:n.85-2631G>A | |
| NM_004261.3:c.85-2631G>A | NP_004252.2:n.85-2631G>A | |
| NM_203341.1:c.85-2631G>A | NP_976086.1:n.85-2631G>A | |
| NM_004261.4:c.85-2631G>A | NP_004252.2:n.85-2631G>A | |
| NM_203341.2:c.85-2631G>A | NP_976086.1:n.85-2631G>A | |
| NR_144512.1:n.162-2631G>A | ||
| NR_144513.1:n.146-2631G>A | ||
| NM_004261.5:c.85-2631G>A MANE Select | NP_004252.2:n.85-2631G>A | |
| NM_203341.3:c.85-2631G>A | NP_976086.1:n.85-2631G>A |