gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95517064 (EAS)
Genomes Max Group AF
0.95367344 (EAS)
Exomes Max Group AF
0.95295207 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206474444T>C , CM000663.2:g.206474444T>C | GRCh38 |
| NC_000001.10:g.206647787T>C , CM000663.1:g.206647787T>C | GRCh37 |
| NC_000001.9:g.204714410T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581977.7:c.201T>C MANE Select | ENSP00000464030.1:p.Ile67= | |
| ENST00000578328.6:c.201T>C | ENSP00000473833.1:p.Ile67= | |
| ENST00000579827.6:c.201T>C | ENSP00000474422.1:p.Ile67= | |
| ENST00000581977.6:c.201T>C | ENSP00000464030.1:p.Ile67= | |
| ENST00000584998.5:c.-55T>C | ENSP00000462396.1:n.-55T>C | |
| ENST00000605726.1:c.201T>C | ENSP00000474229.1:p.Ile67= | |
| ENST00000605818.5:n.546T>C | ||
| NM_001193321.1:c.-55T>C | NP_001180250.1:n.-55T>C | |
| NM_001193322.1:c.201T>C | NP_001180251.1:p.Ile67= | |
| NM_014002.3:c.201T>C | NP_054721.1:p.Ile67= | |
| XM_005273356.2:c.201T>C | XP_005273413.1:p.Ile67= | |
| XR_922002.1:n.575T>C | ||
| XM_017002868.1:c.-281T>C | XP_016858357.1:n.-281T>C | |
| XR_922002.2:n.553T>C | ||
| NM_014002.4:c.201T>C MANE Select | NP_054721.1:p.Ile67= | |
| NM_001193321.2:c.-55T>C | NP_001180250.1:n.-55T>C | |
| NM_001193322.2:c.201T>C | NP_001180251.1:p.Ile67= |