ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00299429 (MID)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00315776 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128309297A>G , CM000667.2:g.128309297A>G | GRCh38 |
| NC_000005.9:g.127644989A>G , CM000667.1:g.127644989A>G | GRCh37 |
| NC_000005.8:g.127672888A>G | NCBI36 |
| NG_008750.1:g.233747T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2087T>C | ||
| ENST00000703785.1:n.2006T>C | ||
| ENST00000262464.9:c.5303T>C MANE Select | ENSP00000262464.4:p.Val1768Ala | |
| ENST00000262464.8:c.5303T>C | ENSP00000262464.4:p.Val1768Ala | |
| ENST00000508053.5:c.5303T>C | ENSP00000424571.1:p.Val1768Ala | |
| ENST00000619499.4:c.5300T>C | ENSP00000482132.1:p.Val1767Ala | |
| NM_001999.3:c.5303T>C | NP_001990.2:p.Val1768Ala | |
| XM_017009228.2:c.5150T>C | XP_016864717.1:p.Val1717Ala | |
| NM_001999.4:c.5303T>C MANE Select | NP_001990.2:p.Val1768Ala |