gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15062822 (AMR)
Genomes Max Group AF
0.15062822 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53160499G>A , CM000674.2:g.53160499G>A | GRCh38 |
| NC_000012.11:g.53554283G>A , CM000674.1:g.53554283G>A | GRCh37 |
| NC_000012.10:g.51840550G>A | NCBI36 |
| NG_030036.1:g.25411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444623.6:c.967-180C>T MANE Select | ENSP00000415485.1:n.967-180C>T | |
| ENST00000267085.8:c.1048-180C>T | ENSP00000267085.3:n.1048-180C>T | |
| ENST00000379843.7:c.*151-180C>T | ENSP00000369172.4:n.*151-180C>T | |
| ENST00000379846.5:c.526-180C>T | ENSP00000369175.1:n.526-180C>T | |
| ENST00000379850.7:c.1043-180C>T | ||
| ENST00000444623.5:c.967-180C>T | ENSP00000415485.1:n.967-180C>T | |
| ENST00000453446.6:c.967-180C>T | ENSP00000410648.2:n.967-180C>T | |
| ENST00000475890.5:c.*151-180C>T | ENSP00000436800.1:n.*151-180C>T | |
| ENST00000485004.5:n.723-180C>T | ||
| ENST00000490589.5:n.570-180C>T | ||
| ENST00000490923.5:n.610-180C>T | ||
| NM_001244705.1:c.967-180C>T | NP_001231634.1:n.967-180C>T | |
| NM_001244706.1:c.268-180C>T | NP_001231635.1:n.268-180C>T | |
| NM_015989.4:c.1048-180C>T | NP_057073.4:n.1048-180C>T | |
| XM_011538442.1:c.1060-180C>T | XP_011536744.1:n.1060-180C>T | |
| XM_011538443.1:c.1237-180C>T | XP_011536745.1:n.1237-180C>T | |
| XM_011538444.1:c.1237-180C>T | XP_011536746.1:n.1237-180C>T | |
| XM_011538445.1:c.1156-180C>T | XP_011536747.1:n.1156-180C>T | |
| XM_011538446.1:c.1048-180C>T | XP_011536748.1:n.1048-180C>T | |
| XM_011538448.1:c.424-180C>T | XP_011536750.1:n.424-180C>T | |
| XM_011538449.1:c.367-180C>T | XP_011536751.1:n.367-180C>T | |
| XM_011538450.1:c.367-180C>T | XP_011536752.1:n.367-180C>T | |
| XM_011538451.1:c.313-180C>T | XP_011536753.1:n.313-180C>T | |
| XR_944570.1:n.1162-180C>T | ||
| XR_944571.1:n.1771-180C>T | ||
| XR_944573.1:n.1066-180C>T | ||
| XM_011538442.2:c.1141-180C>T | XP_011536744.2:n.1141-180C>T | |
| XM_011538446.3:c.1048-180C>T | XP_011536748.1:n.1048-180C>T | |
| XM_017019416.2:c.754-180C>T | XP_016874905.1:n.754-180C>T | |
| XM_017019417.1:c.367-180C>T | XP_016874906.1:n.367-180C>T | |
| XM_017019418.1:c.313-180C>T | XP_016874907.1:n.313-180C>T | |
| XM_017019419.1:c.592-180C>T | XP_016874908.1:n.592-180C>T | |
| XM_024449011.1:c.1348-180C>T | XP_024304779.1:n.1348-180C>T | |
| XM_024449012.1:c.1255-180C>T | XP_024304780.1:n.1255-180C>T | |
| XM_024449013.1:c.1060-180C>T | XP_024304781.1:n.1060-180C>T | |
| XM_024449014.1:c.967-180C>T | XP_024304782.1:n.967-180C>T | |
| XM_024449015.1:c.967-180C>T | XP_024304783.1:n.967-180C>T | |
| XR_001748742.2:n.1504-180C>T | ||
| XR_001748743.2:n.1439-180C>T | ||
| XR_001748744.2:n.1482-180C>T | ||
| XR_001748745.2:n.1385-180C>T | ||
| XR_002957335.1:n.1491-180C>T | ||
| XR_002957336.1:n.1426-180C>T | ||
| XR_944571.3:n.1835-180C>T | ||
| NM_001244705.2:c.967-180C>T MANE Select | NP_001231634.1:n.967-180C>T | |
| NM_015989.5:c.1048-180C>T | NP_057073.4:n.1048-180C>T | |
| NM_001244706.2:c.268-180C>T | NP_001231635.1:n.268-180C>T |