gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005437 (AMR)
Exomes Max Group AF
0.00007283 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129478720C>T , CM000668.2:g.129478720C>T | GRCh38 |
| NC_000006.11:g.129799865C>T , CM000668.1:g.129799865C>T | GRCh37 |
| NC_000006.10:g.129841558C>T | NCBI36 |
| NG_008678.1:g.600580C>T , LRG_409:g.600580C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.7467C>T | ENSP00000481744.2:p.Ser2489= | |
| ENST00000618192.5:c.7743C>T | ENSP00000480802.2:p.Ser2581= | |
| ENST00000421865.3:c.7479C>T MANE Select | ENSP00000400365.2:p.Ser2493= | |
| ENST00000421865.2:c.7479C>T | ENSP00000400365.2:p.Ser2493= | |
| ENST00000617695.4:c.7467C>T | ENSP00000481744.1:p.Ser2489= | |
| ENST00000618192.4:c.7476C>T | ENSP00000480802.1:p.Ser2492= | |
| NM_000426.3:c.7479C>T , LRG_409t1:c.7479C>T | NP_000417.2:p.Ser2493= | |
| NM_001079823.1:c.7467C>T | NP_001073291.1:p.Ser2489= | |
| XM_005266981.2:c.7743C>T | XP_005267038.1:p.Ser2581= | |
| XM_005266982.2:c.7731C>T | XP_005267039.1:p.Ser2577= | |
| XM_011535820.1:c.7737C>T | XP_011534122.1:p.Ser2579= | |
| XM_005266981.3:c.7743C>T | XP_005267038.1:p.Ser2581= | |
| XM_005266982.3:c.7731C>T | XP_005267039.1:p.Ser2577= | |
| XM_011535820.2:c.7737C>T | XP_011534122.1:p.Ser2579= | |
| XM_017010851.2:c.7749C>T | XP_016866340.1:p.Ser2583= | |
| XM_017010852.1:c.5874C>T | XP_016866341.1:p.Ser1958= | |
| NM_000426.4:c.7479C>T MANE Select | NP_000417.3:p.Ser2493= | |
| NM_001079823.2:c.7467C>T | NP_001073291.2:p.Ser2489= |