gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008155 (AFR)
Genomes Max Group AF
0.00004739 (AFR)
Exomes Max Group AF
0.00007716 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42974982A>G , CM000668.2:g.42974982A>G | GRCh38 |
| NC_000006.11:g.42942720A>G , CM000668.1:g.42942720A>G | GRCh37 |
| NC_000006.10:g.43050698A>G | NCBI36 |
| NG_008370.1:g.9262T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.939T>C MANE Select | ENSP00000303511.8:p.Pro313= | |
| ENST00000244546.4:c.939T>C | ENSP00000244546.4:p.Pro313= | |
| ENST00000304611.12:c.939T>C | ENSP00000303511.8:p.Pro313= | |
| NM_000287.3:c.939T>C | NP_000278.3:p.Pro313= | |
| NM_001316313.1:c.675T>C | NP_001303242.1:p.Pro225= | |
| NR_133009.1:n.1032T>C | ||
| XM_011514661.1:c.939T>C | XP_011512963.1:p.Pro313= | |
| XR_926246.1:n.1032T>C | ||
| XM_011514661.2:c.939T>C | XP_011512963.1:p.Pro313= | |
| XR_001743466.2:n.2013T>C | ||
| NM_000287.4:c.939T>C MANE Select | NP_000278.3:p.Pro313= | |
| NM_001316313.2:c.675T>C | NP_001303242.1:p.Pro225= | |
| NR_133009.2:n.970T>C |