gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00259294 (MID)
Genomes Max Group AF
0.0016337 (AMR)
Exomes Max Group AF
0.00272489 (MID)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33170332G>A , CM000668.2:g.33170332G>A | GRCh38 |
| NC_000006.11:g.33138109G>A , CM000668.1:g.33138109G>A | GRCh37 |
| NC_000006.10:g.33246087G>A | NCBI36 |
| NG_011589.1:g.27137C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3576C>T MANE Select | ENSP00000339915.2:p.Gly1192= | |
| ENST00000341947.6:c.3576C>T | ENSP00000339915.2:p.Gly1192= | |
| ENST00000361917.5:c.3255C>T | ENSP00000355123.1:p.Gly1085= | |
| ENST00000374708.8:c.3318C>T | ENSP00000363840.4:p.Gly1106= | |
| ENST00000477772.1:n.273-4516C>T | ||
| NM_080679.2:c.3255C>T | NP_542410.2:p.Gly1085= | |
| NM_080680.2:c.3576C>T | NP_542411.2:p.Gly1192= | |
| NM_080681.2:c.3318C>T | NP_542412.2:p.Gly1106= | |
| XM_011514298.1:c.2730C>T | XP_011512600.1:p.Gly910= | |
| XM_011514299.1:c.2862C>T | XP_011512601.1:p.Gly954= | |
| XM_011514300.1:c.2682C>T | XP_011512602.1:p.Gly894= | |
| XM_011514301.1:c.2619C>T | XP_011512603.1:p.Gly873= | |
| XM_011514302.1:c.2463C>T | XP_011512604.1:p.Gly821= | |
| XM_011514299.2:c.2862C>T | XP_011512601.1:p.Gly954= | |
| XM_011514300.2:c.2682C>T | XP_011512602.1:p.Gly894= | |
| XM_011514302.2:c.2463C>T | XP_011512604.1:p.Gly821= | |
| XM_017010250.1:c.3576C>T | XP_016865739.1:p.Gly1192= | |
| XM_017010251.2:c.2394C>T | XP_016865740.1:p.Gly798= | |
| NM_080680.3:c.3576C>T MANE Select | NP_542411.2:p.Gly1192= | |
| NM_080681.3:c.3318C>T | NP_542412.2:p.Gly1106= | |
| NM_080679.3:c.3255C>T | NP_542410.2:p.Gly1085= |