gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019093 (NFE)
Genomes Max Group AF
0.00004766 (NFE)
Exomes Max Group AF
0.00019637 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33175679G>A , CM000668.2:g.33175679G>A | GRCh38 |
| NC_000006.11:g.33143456G>A , CM000668.1:g.33143456G>A | GRCh37 |
| NC_000006.10:g.33251434G>A | NCBI36 |
| NG_011589.1:g.21790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.844C>T | ||
| ENST00000341947.7:c.2271C>T MANE Select | ENSP00000339915.2:p.Gly757= | |
| ENST00000341947.6:c.2271C>T | ENSP00000339915.2:p.Gly757= | |
| ENST00000361917.5:c.1950C>T | ENSP00000355123.1:p.Gly650= | |
| ENST00000374708.8:c.2013C>T | ENSP00000363840.4:p.Gly671= | |
| ENST00000477772.1:n.272+1330C>T | ||
| NM_080679.2:c.1950C>T | NP_542410.2:p.Gly650= | |
| NM_080680.2:c.2271C>T | NP_542411.2:p.Gly757= | |
| NM_080681.2:c.2013C>T | NP_542412.2:p.Gly671= | |
| XM_011514298.1:c.1425C>T | XP_011512600.1:p.Gly475= | |
| XM_011514299.1:c.1557C>T | XP_011512601.1:p.Gly519= | |
| XM_011514300.1:c.1377C>T | XP_011512602.1:p.Gly459= | |
| XM_011514301.1:c.1314C>T | XP_011512603.1:p.Gly438= | |
| XM_011514302.1:c.1158C>T | XP_011512604.1:p.Gly386= | |
| XM_011514299.2:c.1557C>T | XP_011512601.1:p.Gly519= | |
| XM_011514300.2:c.1377C>T | XP_011512602.1:p.Gly459= | |
| XM_011514302.2:c.1158C>T | XP_011512604.1:p.Gly386= | |
| XM_017010250.1:c.2271C>T | XP_016865739.1:p.Gly757= | |
| XM_017010251.2:c.1089C>T | XP_016865740.1:p.Gly363= | |
| NM_080680.3:c.2271C>T MANE Select | NP_542411.2:p.Gly757= | |
| NM_080681.3:c.2013C>T | NP_542412.2:p.Gly671= | |
| NM_080679.3:c.1950C>T | NP_542410.2:p.Gly650= |