gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001724 (NFE)
Exomes Max Group AF
0.0000183 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129252236G>C , CM000668.2:g.129252236G>C | GRCh38 |
| NC_000006.11:g.129573381G>C , CM000668.1:g.129573381G>C | GRCh37 |
| NC_000006.10:g.129615074G>C | NCBI36 |
| NG_008678.1:g.374096G>C , LRG_409:g.374096G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.2037G>C | ENSP00000481744.2:p.Ala679= | |
| ENST00000618192.5:c.2037G>C | ENSP00000480802.2:p.Ala679= | |
| ENST00000421865.3:c.2037G>C MANE Select | ENSP00000400365.2:p.Ala679= | |
| ENST00000421865.2:c.2037G>C | ENSP00000400365.2:p.Ala679= | |
| ENST00000617695.4:c.2037G>C | ENSP00000481744.1:p.Ala679= | |
| ENST00000618192.4:c.2037G>C | ENSP00000480802.1:p.Ala679= | |
| NM_000426.3:c.2037G>C , LRG_409t1:c.2037G>C | NP_000417.2:p.Ala679= | |
| NM_001079823.1:c.2037G>C | NP_001073291.1:p.Ala679= | |
| XM_005266981.2:c.2037G>C | XP_005267038.1:p.Ala679= | |
| XM_005266982.2:c.2037G>C | XP_005267039.1:p.Ala679= | |
| XM_011535820.1:c.2037G>C | XP_011534122.1:p.Ala679= | |
| XM_005266981.3:c.2037G>C | XP_005267038.1:p.Ala679= | |
| XM_005266982.3:c.2037G>C | XP_005267039.1:p.Ala679= | |
| XM_011535820.2:c.2037G>C | XP_011534122.1:p.Ala679= | |
| XM_017010851.2:c.2043G>C | XP_016866340.1:p.Ala681= | |
| XM_017010852.1:c.168G>C | XP_016866341.1:p.Ala56= | |
| XM_017010853.1:c.2037G>C | XP_016866342.1:p.Ala679= | |
| NM_000426.4:c.2037G>C MANE Select | NP_000417.3:p.Ala679= | |
| NM_001079823.2:c.2037G>C | NP_001073291.2:p.Ala679= |