gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003239 (AMR)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002993 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33180330G>A , CM000668.2:g.33180330G>A | GRCh38 |
| NC_000006.11:g.33148107G>A , CM000668.1:g.33148107G>A | GRCh37 |
| NC_000006.10:g.33256085G>A | NCBI36 |
| NG_011589.1:g.17139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.1287C>T MANE Select | ENSP00000339915.2:p.Gly429= | |
| ENST00000341947.6:c.1287C>T | ENSP00000339915.2:p.Gly429= | |
| ENST00000361917.5:c.966C>T | ENSP00000355123.1:p.Gly322= | |
| ENST00000374708.8:c.1029C>T | ENSP00000363840.4:p.Gly343= | |
| ENST00000457788.5:c.1287C>T | ENSP00000405520.1:p.Gly429= | |
| NM_080679.2:c.966C>T | NP_542410.2:p.Gly322= | |
| NM_080680.2:c.1287C>T | NP_542411.2:p.Gly429= | |
| NM_080681.2:c.1029C>T | NP_542412.2:p.Gly343= | |
| XM_011514298.1:c.441C>T | XP_011512600.1:p.Gly147= | |
| XM_011514299.1:c.573C>T | XP_011512601.1:p.Gly191= | |
| XM_011514300.1:c.393C>T | XP_011512602.1:p.Gly131= | |
| XM_011514301.1:c.330C>T | XP_011512603.1:p.Gly110= | |
| XM_011514302.1:c.174C>T | XP_011512604.1:p.Gly58= | |
| XM_011514299.2:c.573C>T | XP_011512601.1:p.Gly191= | |
| XM_011514300.2:c.393C>T | XP_011512602.1:p.Gly131= | |
| XM_011514302.2:c.174C>T | XP_011512604.1:p.Gly58= | |
| XM_017010250.1:c.1287C>T | XP_016865739.1:p.Gly429= | |
| XM_017010251.2:c.105C>T | XP_016865740.1:p.Gly35= | |
| NM_080680.3:c.1287C>T MANE Select | NP_542411.2:p.Gly429= | |
| NM_080681.3:c.1029C>T | NP_542412.2:p.Gly343= | |
| NM_080679.3:c.966C>T | NP_542410.2:p.Gly322= |