gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23056305 (EAS)
Genomes Max Group AF
0.23056305 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80852415C>T , CM000667.2:g.80852415C>T | GRCh38 |
| NC_000005.9:g.80148234C>T , CM000667.1:g.80148234C>T | GRCh37 |
| NC_000005.8:g.80183990C>T | NCBI36 |
| NG_016607.1:g.202941C>T | |
| NG_016607.2:g.202941C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.2814-1715C>T MANE Select | ENSP00000265081.6:n.2814-1715C>T | |
| ENST00000658259.1:c.2646-1715C>T | ENSP00000499617.1:n.2646-1715C>T | |
| ENST00000659302.1:c.222-1715C>T | ||
| ENST00000667069.1:c.2619-1715C>T | ENSP00000499502.1:n.2619-1715C>T | |
| ENST00000670357.1:c.*138-1715C>T | ENSP00000499791.1:n.*138-1715C>T | |
| ENST00000265081.6:c.2814-1715C>T | ENSP00000265081.6:n.2814-1715C>T | |
| NM_002439.4:c.2814-1715C>T | NP_002430.3:n.2814-1715C>T | |
| NM_002439.5:c.2814-1715C>T MANE Select | NP_002430.3:n.2814-1715C>T |