gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00362857 (AMR)
Genomes Max Group AF
0.00277874 (AMR)
Exomes Max Group AF
0.00377883 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30902524C>G , CM000678.2:g.30902524C>G | GRCh38 |
| NC_000016.9:g.30913845C>G , CM000678.1:g.30913845C>G | GRCh37 |
| NC_000016.8:g.30821346C>G | NCBI36 |
| NG_009171.1:g.10918C>G , LRG_408:g.10918C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279804.3:c.591C>G MANE Select | ENSP00000279804.2:p.Pro197= | |
| ENST00000279804.2:c.591C>G | ENSP00000279804.2:p.Pro197= | |
| ENST00000395019.3:c.588C>G | ENSP00000378465.3:p.Pro196= | |
| NM_001142544.1:c.588C>G | NP_001136016.1:p.Pro196= | |
| NM_001330.3:c.591C>G , LRG_408t1:c.591C>G | NP_001321.1:p.Pro197= | |
| XM_011545759.1:c.657C>G | XP_011544061.1:p.Pro219= | |
| XM_011545760.1:c.615C>G | XP_011544062.1:p.Pro205= | |
| XM_011545759.2:c.657C>G | XP_011544061.1:p.Pro219= | |
| XM_011545760.2:c.615C>G | XP_011544062.1:p.Pro205= | |
| NM_001142544.2:c.588C>G | NP_001136016.1:p.Pro196= | |
| NM_001142544.3:c.588C>G | NP_001136016.1:p.Pro196= | |
| NM_001330.5:c.591C>G MANE Select | NP_001321.1:p.Pro197= | |
| NR_165660.1:n.729C>G |