gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7938546 (EAS)
Genomes Max Group AF
0.7938546 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86232159C>A , CM000672.2:g.86232159C>A | GRCh38 |
| NC_000010.10:g.87991916C>A , CM000672.1:g.87991916C>A | GRCh37 |
| NC_000010.9:g.87981896C>A | NCBI36 |
| NG_011875.1:g.139335G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327946.12:c.236-25511G>T MANE Select | ENSP00000330148.7:n.236-25511G>T | |
| ENST00000327946.11:c.236-25511G>T | ENSP00000330148.7:n.236-25511G>T | |
| ENST00000464741.2:c.236-25511G>T | ENSP00000433064.1:n.236-25511G>T | |
| NM_017551.2:c.236-25511G>T | NP_060021.1:n.236-25511G>T | |
| XM_011539720.1:c.236-25511G>T | XP_011538022.1:n.236-25511G>T | |
| XM_011539720.2:c.236-25511G>T | XP_011538022.1:n.236-25511G>T | |
| NM_017551.3:c.236-25511G>T MANE Select | NP_060021.1:n.236-25511G>T |