gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20787997 (AMR)
Genomes Max Group AF
0.20787997 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112910856C>T , CM000674.2:g.112910856C>T | GRCh38 |
| NC_000012.11:g.113348661C>T , CM000674.1:g.113348661C>T | GRCh37 |
| NC_000012.10:g.111833044C>T | NCBI36 |
| NG_011530.1:g.8923C>T | |
| NG_011530.2:g.8923C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000202917.10:c.470-195C>T MANE Select | ENSP00000202917.5:n.470-195C>T | |
| ENST00000445409.7:c.470-195C>T | ENSP00000388001.2:n.470-195C>T | |
| ENST00000452357.7:c.470-195C>T | ENSP00000415721.2:n.470-195C>T | |
| ENST00000540589.3:c.470-195C>T | ENSP00000474083.2:n.470-195C>T | |
| ENST00000549820.2:n.537-195C>T | ||
| ENST00000550689.2:c.470-242C>T | ENSP00000448348.2:n.470-242C>T | |
| ENST00000550883.2:c.470-195C>T | ENSP00000450286.2:n.470-195C>T | |
| ENST00000551241.6:c.470-195C>T | ENSP00000448790.1:n.470-195C>T | |
| ENST00000552526.2:c.470-195C>T | ENSP00000475139.2:n.470-195C>T | |
| ENST00000553152.2:c.470-195C>T | ENSP00000449053.2:n.470-195C>T | |
| ENST00000675868.2:c.470-242C>T | ENSP00000502804.1:n.470-242C>T | |
| ENST00000679467.1:c.470-180C>T | ENSP00000506593.1:n.470-180C>T | |
| ENST00000679494.1:c.470-195C>T | ENSP00000505090.1:n.470-195C>T | |
| ENST00000679767.1:c.469+2032C>T | ENSP00000505476.1:n.469+2032C>T | |
| ENST00000679841.1:c.470-242C>T | ENSP00000505725.1:n.470-242C>T | |
| ENST00000679971.1:c.180+3637C>T | ENSP00000505786.1:n.180+3637C>T | |
| ENST00000679987.1:c.470-195C>T | ENSP00000504970.1:n.470-195C>T | |
| ENST00000680189.1:c.470-195C>T | ENSP00000505572.1:n.470-195C>T | |
| ENST00000680455.1:c.180+3637C>T | ENSP00000505165.1:n.180+3637C>T | |
| ENST00000680522.1:c.470-200C>T | ENSP00000506485.1:n.470-200C>T | |
| ENST00000680659.1:c.470-195C>T | ENSP00000504942.1:n.470-195C>T | |
| ENST00000680919.1:c.470-195C>T | ENSP00000506474.1:n.470-195C>T | |
| ENST00000680934.1:c.470-195C>T | ENSP00000505028.1:n.470-195C>T | |
| ENST00000681228.1:c.383-195C>T | ENSP00000505703.1:n.383-195C>T | |
| ENST00000681436.1:n.376-195C>T | ||
| ENST00000681466.1:n.242-195C>T | ||
| ENST00000681505.1:c.470-242C>T | ENSP00000505794.1:n.470-242C>T | |
| ENST00000681700.1:c.470-242C>T | ENSP00000506580.1:n.470-242C>T | |
| ENST00000681831.1:n.1864-195C>T | ||
| ENST00000681934.1:c.470-195C>T | ENSP00000505482.1:n.470-195C>T | |
| ENST00000202917.9:c.470-195C>T | ENSP00000202917.5:n.470-195C>T | |
| ENST00000445409.6:c.470-195C>T | ENSP00000388001.2:n.470-195C>T | |
| ENST00000452357.6:c.470-195C>T | ENSP00000415721.2:n.470-195C>T | |
| ENST00000549820.1:n.537-242C>T | ||
| ENST00000550689.1:c.458-195C>T | ENSP00000448348.1:n.458-195C>T | |
| ENST00000550883.1:c.180+3637C>T | ENSP00000450286.1:n.180+3637C>T | |
| ENST00000551241.5:c.470-195C>T | ENSP00000448790.1:n.470-195C>T | |
| NM_001032409.1:c.470-195C>T | NP_001027581.1:n.470-195C>T | |
| NM_002534.2:c.470-195C>T | NP_002525.2:n.470-195C>T | |
| NM_016816.2:c.470-195C>T | NP_058132.2:n.470-195C>T | |
| XM_006719434.1:c.470-195C>T | XP_006719497.1:n.470-195C>T | |
| XM_011538413.1:c.470-242C>T | XP_011536715.1:n.470-242C>T | |
| XM_011538414.1:c.470-195C>T | XP_011536716.1:n.470-195C>T | |
| XR_944557.1:n.560-242C>T | ||
| XR_944558.1:n.560-242C>T | ||
| NM_001032409.2:c.470-195C>T | NP_001027581.1:n.470-195C>T | |
| NM_001320151.1:c.470-195C>T | NP_001307080.1:n.470-195C>T | |
| NM_002534.3:c.470-195C>T | NP_002525.2:n.470-195C>T | |
| NM_016816.3:c.470-195C>T | NP_058132.2:n.470-195C>T | |
| XM_006719434.2:c.470-195C>T | XP_006719497.1:n.470-195C>T | |
| XM_011538413.2:c.470-242C>T | XP_011536715.1:n.470-242C>T | |
| XM_017019361.2:c.470-242C>T | XP_016874850.1:n.470-242C>T | |
| XM_017019362.1:c.28-242C>T | XP_016874851.1:n.28-242C>T | |
| XR_944558.2:n.554-242C>T | ||
| NM_016816.4:c.470-195C>T MANE Select | NP_058132.2:n.470-195C>T | |
| NM_001032409.3:c.470-195C>T | NP_001027581.1:n.470-195C>T | |
| NM_001320151.2:c.470-195C>T | NP_001307080.1:n.470-195C>T | |
| NM_002534.4:c.470-195C>T | NP_002525.2:n.470-195C>T |