ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00045005 (NFE)
Genomes Max Group AF
0.00030445 (NFE)
Exomes Max Group AF
0.00045241 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.18795447C>A , CM000678.2:g.18795447C>A | GRCh38 |
| NC_000016.9:g.18806769C>A , CM000678.1:g.18806769C>A | GRCh37 |
| NC_000016.8:g.18714270C>A | NCBI36 |
| NG_042860.1:g.11232G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304414.12:c.408+17G>T MANE Select | ENSP00000306788.7:n.408+17G>T | |
| ENST00000304414.11:c.408+17G>T | ENSP00000306788.7:n.408+17G>T | |
| ENST00000546206.6:c.321+17G>T | ENSP00000440048.2:n.321+17G>T | |
| ENST00000562234.2:c.294+17G>T | ENSP00000455341.2:n.294+17G>T | |
| ENST00000562819.5:c.149-2077G>T | ENSP00000457372.1:n.149-2077G>T | |
| ENST00000563861.5:c.291-764G>T | ENSP00000456596.1:n.291-764G>T | |
| ENST00000567078.2:c.408+17G>T | ENSP00000454746.2:n.408+17G>T | |
| ENST00000569976.5:n.507G>T | ||
| NM_001313858.1:c.321+17G>T | NP_001300787.1:n.321+17G>T | |
| NM_015161.1:c.408+17G>T | NP_055976.1:n.408+17G>T | |
| NM_015161.2:c.408+17G>T | NP_055976.1:n.408+17G>T | |
| NM_015161.3:c.408+17G>T MANE Select | NP_055976.1:n.408+17G>T |