gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00214747 (NFE)
Genomes Max Group AF
0.00160304 (NFE)
Exomes Max Group AF
0.00216649 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183693918A>C , CM000666.2:g.183693918A>C | GRCh38 |
| NC_000004.11:g.184615071A>C , CM000666.1:g.184615071A>C | GRCh37 |
| NC_000004.10:g.184852065A>C | NCBI36 |
| NG_033102.1:g.39652A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334690.11:c.2388A>C MANE Select | ENSP00000335371.6:p.Gly796= | |
| ENST00000334690.10:c.2388A>C | ENSP00000335371.6:p.Gly796= | |
| ENST00000357207.8:c.2388A>C | ENSP00000349738.4:p.Gly796= | |
| ENST00000505676.5:c.*502A>C | ENSP00000422915.1:n.*502A>C | |
| ENST00000512476.1:c.1206A>C | ENSP00000421004.1:p.Gly402= | |
| NM_021942.5:c.2388A>C | NP_068761.4:p.Gly796= | |
| NM_199053.2:c.2388A>C | NP_951008.1:p.Gly796= | |
| XM_011532180.1:c.2388A>C | XP_011530482.1:p.Gly796= | |
| XM_017008537.2:c.2388A>C | XP_016864026.1:p.Gly796= | |
| XM_017008538.2:c.2388A>C | XP_016864027.1:p.Gly796= | |
| XM_024454179.1:c.2388A>C | XP_024309947.1:p.Gly796= | |
| XM_024454180.1:c.2388A>C | XP_024309948.1:p.Gly796= | |
| XM_024454181.1:c.1038A>C | XP_024309949.1:p.Gly346= | |
| XR_001741315.2:n.2580A>C | ||
| NM_021942.6:c.2388A>C MANE Select | NP_068761.4:p.Gly796= | |
| NM_199053.3:c.2388A>C | NP_951008.1:p.Gly796= |