gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00023134 (AFR)
Genomes Max Group AF
0.00022234 (AFR)
Exomes Max Group AF
0.0001613 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219423789C>T , CM000664.2:g.219423789C>T | GRCh38 |
| NC_000002.11:g.220288511C>T , CM000664.1:g.220288511C>T | GRCh37 |
| NC_000002.10:g.219996755C>T | NCBI36 |
| NG_008043.1:g.10413C>T , LRG_380:g.10413C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.731C>T | ||
| ENST00000683013.1:n.645C>T | ||
| ENST00000373960.4:c.1257C>T MANE Select | ENSP00000363071.3:p.Pro419= | |
| ENST00000373960.3:c.1257C>T | ENSP00000363071.3:p.Pro419= | |
| ENST00000477226.5:n.729C>T | ||
| ENST00000492726.1:n.652C>T | ||
| NM_001927.3:c.1257C>T , LRG_380t1:c.1257C>T | NP_001918.3:p.Pro419= | |
| NM_001927.4:c.1257C>T MANE Select | NP_001918.3:p.Pro419= | |
| NM_001382708.1:c.1254C>T | NP_001369637.1:p.Pro418= | |
| NM_001382709.1:c.825C>T | NP_001369638.1:p.Pro275= | |
| NM_001382710.1:c.1188C>T | NP_001369639.1:p.Pro396= | |
| NM_001382711.1:c.1236C>T | NP_001369640.1:p.Pro412= | |
| NM_001382712.1:c.1257C>T | NP_001369641.1:p.Pro419= | |
| NM_001382713.1:c.987C>T | NP_001369642.1:p.Pro329= |