dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33441003 (AFR)
Genomes Max Group AF
0.33441003 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.146923272A>G , CM000666.2:g.146923272A>G | GRCh38 |
| NC_000004.11:g.147844424A>G , CM000666.1:g.147844424A>G | GRCh37 |
| NC_000004.10:g.148063874A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325106.9:c.177-14023T>C MANE Select | ENSP00000316740.4:n.177-14023T>C | |
| ENST00000325106.8:c.177-14023T>C | ENSP00000316740.4:n.177-14023T>C | |
| ENST00000398886.8:c.177-14023T>C | ENSP00000381861.5:n.177-14023T>C | |
| ENST00000504425.5:c.177-14023T>C | ENSP00000425778.1:n.177-14023T>C | |
| ENST00000508306.5:c.177-14023T>C | ENSP00000422648.1:n.177-14023T>C | |
| ENST00000513335.5:c.255-14023T>C | ENSP00000423505.1:n.255-14023T>C | |
| ENST00000515315.1:c.255-14023T>C | ENSP00000423646.1:n.255-14023T>C | |
| NM_001300761.1:c.255-14023T>C | NP_001287690.1:n.255-14023T>C | |
| NM_031956.2:c.177-14023T>C | NP_114162.2:n.177-14023T>C | |
| XM_005263270.1:c.255-14023T>C | XP_005263327.1:n.255-14023T>C | |
| XM_006714335.1:c.255-14023T>C | XP_006714398.1:n.255-14023T>C | |
| XM_006714336.1:c.255-14023T>C | XP_006714399.1:n.255-14023T>C | |
| XM_006714338.1:c.177-14023T>C | XP_006714401.1:n.177-14023T>C | |
| XM_006714339.1:c.255-14023T>C | XP_006714402.1:n.255-14023T>C | |
| XM_011532310.1:c.255-14023T>C | XP_011530612.1:n.255-14023T>C | |
| XR_427552.1:n.491-14023T>C | ||
| XR_938777.1:n.491-14023T>C | ||
| XR_938778.1:n.491-14023T>C | ||
| XR_938779.1:n.372-14023T>C | ||
| NM_001300761.2:c.255-14023T>C | NP_001287690.1:n.255-14023T>C | |
| NM_001317806.1:c.177-14023T>C | NP_001304735.1:n.177-14023T>C | |
| NM_031956.3:c.177-14023T>C | NP_114162.2:n.177-14023T>C | |
| NR_133922.1:n.408-14023T>C | ||
| XM_006714339.2:c.255-14023T>C | XP_006714402.1:n.255-14023T>C | |
| XM_011532310.2:c.255-14023T>C | XP_011530612.1:n.255-14023T>C | |
| XM_024454241.1:c.177-14023T>C | XP_024310009.1:n.177-14023T>C | |
| NM_001300761.3:c.255-14023T>C | NP_001287690.1:n.255-14023T>C | |
| NM_001317806.2:c.177-14023T>C | NP_001304735.1:n.177-14023T>C | |
| NR_133922.2:n.386-14023T>C | ||
| NM_001300761.4:c.255-14023T>C | NP_001287690.1:n.255-14023T>C | |
| NM_001317806.3:c.177-14023T>C | NP_001304735.1:n.177-14023T>C | |
| NM_031956.4:c.177-14023T>C MANE Select | NP_114162.2:n.177-14023T>C | |
| NR_133922.3:n.386-14023T>C |