dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00054555 (SAS)
Genomes Max Group AF
0.00098364 (SAS)
Exomes Max Group AF
0.00048267 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127855A>G , CM000684.2:g.42127855A>G | GRCh38 |
| NC_000022.10:g.42523857A>G , CM000684.1:g.42523857A>G | GRCh37 |
| NC_000022.9:g.40853801A>G | NCBI36 |
| NG_008376.3:g.7137T>C | |
| NG_008376.4:g.7956T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.770T>C | ENSP00000353241.6:n.770T>C | |
| ENST00000645361.2:c.972T>C MANE Select | ENSP00000496150.1:p.His324= | |
| ENST00000359033.4:c.819T>C | ENSP00000351927.4:p.His273= | |
| ENST00000360124.9:c.590T>C | ENSP00000353241.5:n.590T>C | |
| ENST00000360608.9:c.972T>C | ENSP00000353820.5:p.His324= | |
| ENST00000389970.7:c.906T>C | ENSP00000374620.4:p.His302= | |
| ENST00000488442.1:n.1696T>C | ||
| NM_000106.5:c.972T>C | NP_000097.3:p.His324= | |
| NM_001025161.2:c.819T>C | NP_001020332.2:p.His273= | |
| XM_011529966.1:c.972T>C | XP_011528268.1:p.His324= | |
| XM_011529967.1:c.972T>C | XP_011528269.1:p.His324= | |
| XM_011529968.1:c.972T>C | XP_011528270.1:p.His324= | |
| XM_011529969.1:c.828T>C | XP_011528271.1:p.His276= | |
| XM_011529970.1:c.819T>C | XP_011528272.1:p.His273= | |
| XM_011529971.1:c.828T>C | XP_011528273.1:p.His276= | |
| XM_011529972.1:c.844-221T>C | XP_011528274.1:n.844-221T>C | |
| NM_000106.6:c.972T>C MANE Select | NP_000097.3:p.His324= | |
| NM_001025161.3:c.819T>C | NP_001020332.2:p.His273= |