gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003237 (AMR)
Genomes Max Group AF
0.00000489 (NFE)
Exomes Max Group AF
0.00004365 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129492483T>C , CM000668.2:g.129492483T>C | GRCh38 |
| NC_000006.11:g.129813628T>C , CM000668.1:g.129813628T>C | GRCh37 |
| NC_000006.10:g.129855321T>C | NCBI36 |
| NG_008678.1:g.614343T>C , LRG_409:g.614343T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494137.2:c.309T>C | ENSP00000510626.1:p.His103= | |
| ENST00000498257.6:c.309T>C | ENSP00000510533.1:p.His103= | |
| ENST00000617695.5:c.8232T>C | ENSP00000481744.2:p.His2744= | |
| ENST00000618192.5:c.8508T>C | ENSP00000480802.2:p.His2836= | |
| ENST00000688198.1:n.1222T>C | ||
| ENST00000688799.1:c.309T>C | ENSP00000508458.1:p.His103= | |
| ENST00000690858.1:n.1238T>C | ||
| ENST00000421865.3:c.8244T>C MANE Select | ENSP00000400365.2:p.His2748= | |
| ENST00000421865.2:c.8244T>C | ENSP00000400365.2:p.His2748= | |
| ENST00000498257.5:n.557T>C | ||
| ENST00000617695.4:c.8232T>C | ENSP00000481744.1:p.His2744= | |
| ENST00000618192.4:c.8241T>C | ENSP00000480802.1:p.His2747= | |
| NM_000426.3:c.8244T>C , LRG_409t1:c.8244T>C | NP_000417.2:p.His2748= | |
| NM_001079823.1:c.8232T>C | NP_001073291.1:p.His2744= | |
| XM_005266981.2:c.8508T>C | XP_005267038.1:p.His2836= | |
| XM_005266982.2:c.8496T>C | XP_005267039.1:p.His2832= | |
| XM_011535820.1:c.8502T>C | XP_011534122.1:p.His2834= | |
| XM_005266981.3:c.8508T>C | XP_005267038.1:p.His2836= | |
| XM_005266982.3:c.8496T>C | XP_005267039.1:p.His2832= | |
| XM_011535820.2:c.8502T>C | XP_011534122.1:p.His2834= | |
| XM_017010851.2:c.8514T>C | XP_016866340.1:p.His2838= | |
| XM_017010852.1:c.6639T>C | XP_016866341.1:p.His2213= | |
| NM_000426.4:c.8244T>C MANE Select | NP_000417.3:p.His2748= | |
| NM_001079823.2:c.8232T>C | NP_001073291.2:p.His2744= |