gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3283511 (AFR)
Genomes Max Group AF
0.3283511 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65833477C>T , CM000674.2:g.65833477C>T | GRCh38 |
| NC_000012.11:g.66227257C>T , CM000674.1:g.66227257C>T | GRCh37 |
| NC_000012.10:g.64513524C>T | NCBI36 |
| NG_016296.1:g.14018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403681.7:c.199-5042C>T MANE Select | ENSP00000384026.2:n.199-5042C>T | |
| ENST00000354636.7:c.199-5042C>T | ENSP00000346658.3:n.199-5042C>T | |
| ENST00000393577.7:c.199-5042C>T | ENSP00000377205.3:n.199-5042C>T | |
| ENST00000393578.7:c.199-5042C>T | ENSP00000377206.3:n.199-5042C>T | |
| ENST00000403681.6:c.199-5042C>T | ENSP00000384026.2:n.199-5042C>T | |
| ENST00000425208.6:c.199-5042C>T | ENSP00000407306.2:n.199-5042C>T | |
| ENST00000536545.5:c.199-5042C>T | ENSP00000437621.1:n.199-5042C>T | |
| ENST00000537275.5:c.199-5042C>T | ENSP00000437747.1:n.199-5042C>T | |
| ENST00000537429.5:c.199-5042C>T | ENSP00000443372.1:n.199-5042C>T | |
| ENST00000539662.1:c.88-5042C>T | ENSP00000440919.1:n.88-5042C>T | |
| ENST00000541363.5:c.199-5042C>T | ENSP00000439317.1:n.199-5042C>T | |
| NM_001300918.1:c.199-5042C>T | NP_001287847.1:n.199-5042C>T | |
| NM_001300919.1:c.199-5042C>T | NP_001287848.1:n.199-5042C>T | |
| NM_003483.4:c.199-5042C>T | NP_003474.1:n.199-5042C>T | |
| NM_003484.1:c.199-5042C>T | NP_003475.1:n.199-5042C>T | |
| NM_001330190.1:c.199-5042C>T | NP_001317119.1:n.199-5042C>T | |
| NM_003483.6:c.199-5042C>T MANE Select | NP_003474.1:n.199-5042C>T |