COSMIC:
COSM6051433 (not active)
COSM6051434 (not active)
COSM6051435 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00133781 (AFR)
Genomes Max Group AF
0.00119595 (AFR)
Exomes Max Group AF
0.00131215 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2688663C>T , CM000680.2:g.2688663C>T | GRCh38 |
| NC_000018.9:g.2688661C>T , CM000680.1:g.2688661C>T | GRCh37 |
| NC_000018.8:g.2678661C>T | NCBI36 |
| NG_031972.1:g.37776C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684915.1:n.946C>T | ||
| ENST00000688342.1:c.789C>T | ENSP00000508422.1:p.His263= | |
| ENST00000320876.11:c.789C>T MANE Select | ENSP00000326603.7:p.His263= | |
| ENST00000320876.10:c.789C>T | ENSP00000326603.6:p.His263= | |
| ENST00000581226.1:n.23C>T | ||
| NM_015295.2:c.789C>T | NP_056110.2:p.His263= | |
| XM_011525642.1:c.789C>T | XP_011523944.1:p.His263= | |
| XM_011525643.1:c.789C>T | XP_011523945.1:p.His263= | |
| XM_011525644.1:c.405C>T | XP_011523946.1:p.His135= | |
| XM_011525645.1:c.225C>T | XP_011523947.1:p.His75= | |
| XM_011525646.1:c.789C>T | XP_011523948.1:p.His263= | |
| XM_011525647.1:c.789C>T | XP_011523949.1:p.His263= | |
| XR_430039.1:n.978C>T | ||
| XR_935054.1:n.978C>T | ||
| XR_935055.1:n.978C>T | ||
| XM_011525643.2:c.789C>T | XP_011523945.1:p.His263= | |
| XM_017025684.1:c.225C>T | XP_016881173.1:p.His75= | |
| XR_001753172.1:n.978C>T | ||
| XR_001753173.1:n.978C>T | ||
| XR_001753174.1:n.978C>T | ||
| XR_001753175.1:n.978C>T | ||
| XR_001753176.1:n.978C>T | ||
| XR_001753177.1:n.978C>T | ||
| XR_001753178.1:n.978C>T | ||
| XR_001753179.1:n.978C>T | ||
| XR_935055.2:n.978C>T | ||
| NM_015295.3:c.789C>T MANE Select | NP_056110.2:p.His263= |