gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000122 (NFE)
Exomes Max Group AF
0.00001295 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33188515A>G , CM000668.2:g.33188515A>G | GRCh38 |
| NC_000006.11:g.33156292A>G , CM000668.1:g.33156292A>G | GRCh37 |
| NC_000006.10:g.33264270A>G | NCBI36 |
| NG_011589.1:g.8954T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682718.1:n.270T>C | ||
| ENST00000341947.7:c.453T>C MANE Select | ENSP00000339915.2:p.Arg151= | |
| ENST00000341947.6:c.453T>C | ENSP00000339915.2:p.Arg151= | |
| ENST00000361917.5:c.453T>C | ENSP00000355123.1:p.Arg151= | |
| ENST00000374708.8:c.453T>C | ENSP00000363840.4:p.Arg151= | |
| ENST00000395194.1:c.453T>C | ENSP00000378620.1:p.Arg151= | |
| ENST00000457788.5:c.453T>C | ENSP00000405520.1:p.Arg151= | |
| NM_001163771.1:c.453T>C | NP_001157243.1:p.Arg151= | |
| NM_080679.2:c.453T>C | NP_542410.2:p.Arg151= | |
| NM_080680.2:c.453T>C | NP_542411.2:p.Arg151= | |
| NM_080681.2:c.453T>C | NP_542412.2:p.Arg151= | |
| XM_011514298.1:c.-394T>C | XP_011512600.1:n.-394T>C | |
| XM_017010250.1:c.453T>C | XP_016865739.1:p.Arg151= | |
| NM_001163771.2:c.453T>C | NP_001157243.1:p.Arg151= | |
| NM_080680.3:c.453T>C MANE Select | NP_542411.2:p.Arg151= | |
| NM_080681.3:c.453T>C | NP_542412.2:p.Arg151= | |
| NM_080679.3:c.453T>C | NP_542410.2:p.Arg151= |