ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128305924G>A , CM000667.2:g.128305924G>A | GRCh38 |
| NC_000005.9:g.127641616G>A , CM000667.1:g.127641616G>A | GRCh37 |
| NC_000005.8:g.127669515G>A | NCBI36 |
| NG_008750.1:g.237120C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2231C>T | ||
| ENST00000703785.1:n.2150C>T | ||
| ENST00000262464.9:c.5447C>T MANE Select | ENSP00000262464.4:p.Pro1816Leu | |
| ENST00000262464.8:c.5447C>T | ENSP00000262464.4:p.Pro1816Leu | |
| ENST00000508053.5:c.5447C>T | ENSP00000424571.1:p.Pro1816Leu | |
| ENST00000619499.4:c.5444C>T | ENSP00000482132.1:p.Pro1815Leu | |
| NM_001999.3:c.5447C>T | NP_001990.2:p.Pro1816Leu | |
| XM_017009228.2:c.5294C>T | XP_016864717.1:p.Pro1765Leu | |
| NM_001999.4:c.5447C>T MANE Select | NP_001990.2:p.Pro1816Leu |