gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00764448 (AFR)
Genomes Max Group AF
0.00739198 (AFR)
Exomes Max Group AF
0.00747227 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197328951A>G , CM000663.2:g.197328951A>G | GRCh38 |
| NC_000001.10:g.197298081A>G , CM000663.1:g.197298081A>G | GRCh37 |
| NC_000001.9:g.195564704A>G | NCBI36 |
| NG_008483.1:g.65674A>G | |
| NG_008483.2:g.132490A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.600A>G MANE Select | ENSP00000356370.3:p.Thr200= | |
| ENST00000638467.1:c.600A>G | ENSP00000491102.1:p.Thr200= | |
| ENST00000367399.6:c.600A>G | ENSP00000356369.2:p.Thr200= | |
| ENST00000367400.7:c.600A>G | ENSP00000356370.3:p.Thr200= | |
| ENST00000475659.1:n.737A>G | ||
| ENST00000484075.5:c.600A>G | ENSP00000433932.1:p.Thr200= | |
| ENST00000535699.5:c.393A>G | ENSP00000438786.1:p.Thr131= | |
| ENST00000538660.5:c.600A>G | ENSP00000438091.1:p.Thr200= | |
| NM_001193640.1:c.600A>G | NP_001180569.1:p.Thr200= | |
| NM_001257965.1:c.393A>G | NP_001244894.1:p.Thr131= | |
| NM_001257966.1:c.600A>G | NP_001244895.1:p.Thr200= | |
| NM_201253.2:c.600A>G | NP_957705.1:p.Thr200= | |
| NR_047563.1:n.809A>G | ||
| NR_047564.1:n.809A>G | ||
| XM_011509365.1:c.600A>G | XP_011507667.1:p.Thr200= | |
| XM_011509366.1:c.600A>G | XP_011507668.1:p.Thr200= | |
| XM_011509367.1:c.600A>G | XP_011507669.1:p.Thr200= | |
| XM_011509368.1:c.71-15330A>G | XP_011507670.1:n.71-15330A>G | |
| XM_011509365.2:c.600A>G | XP_011507667.1:p.Thr200= | |
| XM_017000851.1:c.-104A>G | XP_016856340.1:n.-104A>G | |
| XM_017000852.1:c.600A>G | XP_016856341.1:p.Thr200= | |
| NM_201253.3:c.600A>G MANE Select | NP_957705.1:p.Thr200= | |
| NM_001193640.2:c.600A>G | NP_001180569.1:p.Thr200= | |
| NM_001257965.2:c.393A>G | NP_001244894.1:p.Thr131= | |
| NR_047563.2:n.761A>G | ||
| NR_047564.2:n.761A>G | ||
| NM_001257966.2:c.600A>G | NP_001244895.1:p.Thr200= |