dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31494661 (AFR)
Genomes Max Group AF
0.31494661 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23299253C>T , CM000680.2:g.23299253C>T | GRCh38 |
| NC_000018.9:g.20879217C>T , CM000680.1:g.20879217C>T | GRCh37 |
| NC_000018.8:g.19133215C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383233.8:c.831-1186G>A MANE Select | ENSP00000372720.3:n.831-1186G>A | |
| ENST00000383233.7:c.831-1186G>A | ENSP00000372720.3:n.831-1186G>A | |
| ENST00000460322.5:c.*469-1186G>A | ENSP00000433795.1:n.*469-1186G>A | |
| ENST00000473688.5:c.*302-1186G>A | ENSP00000431584.1:n.*302-1186G>A | |
| ENST00000475185.5:n.296-1186G>A | ||
| ENST00000477053.5:c.*330-1186G>A | ENSP00000437280.1:n.*330-1186G>A | |
| ENST00000542162.5:c.*496-1186G>A | ENSP00000440152.2:n.*496-1186G>A | |
| ENST00000577448.5:n.386-1186G>A | ||
| ENST00000578790.5:n.251+10427G>A | ||
| ENST00000581444.5:c.*632+10427G>A | ENSP00000462199.1:n.*632+10427G>A | |
| ENST00000583048.5:n.367-1186G>A | ||
| NM_032933.4:c.831-1186G>A | NP_116322.3:n.831-1186G>A | |
| XM_011526232.1:c.831-253G>A | XP_011524534.1:n.831-253G>A | |
| XM_011526233.1:c.933-1186G>A | XP_011524535.1:n.933-1186G>A | |
| XR_243852.2:n.938-1186G>A | ||
| XR_243853.1:n.892-1186G>A | ||
| NM_001318834.1:c.468-1186G>A | NP_001305763.1:n.468-1186G>A | |
| NM_032933.5:c.831-1186G>A | NP_116322.3:n.831-1186G>A | |
| NR_134875.1:n.899-1186G>A | ||
| NR_134876.1:n.819-1186G>A | ||
| NR_134877.1:n.902-1186G>A | ||
| NR_148382.1:n.823-1186G>A | ||
| NR_148383.1:n.901-1186G>A | ||
| NR_148384.1:n.852-1186G>A | ||
| NR_148385.1:n.866-1186G>A | ||
| XM_011526233.2:c.933-1186G>A | XP_011524535.1:n.933-1186G>A | |
| XM_017026043.1:c.830+10427G>A | XP_016881532.1:n.830+10427G>A | |
| XM_017026044.2:c.933-253G>A | XP_016881533.1:n.933-253G>A | |
| XM_017026045.1:c.753-1186G>A | XP_016881534.1:n.753-1186G>A | |
| XM_017026046.1:c.467+10427G>A | XP_016881535.1:n.467+10427G>A | |
| XM_017026047.1:c.467+10427G>A | XP_016881536.1:n.467+10427G>A | |
| XM_017026048.1:c.356+10427G>A | XP_016881537.1:n.356+10427G>A | |
| XM_017026049.1:c.468-1186G>A | XP_016881538.1:n.468-1186G>A | |
| XM_017026050.1:c.468-1186G>A | XP_016881539.1:n.468-1186G>A | |
| XM_017026051.1:c.468-1186G>A | XP_016881540.1:n.468-1186G>A | |
| XM_024451277.1:c.467+10427G>A | XP_024307045.1:n.467+10427G>A | |
| XR_001753287.1:n.1078-1186G>A | ||
| XR_001753288.1:n.938-1186G>A | ||
| XR_001753289.1:n.938-1186G>A | ||
| XR_001753290.2:n.805-1186G>A | ||
| XR_001753291.1:n.772-1186G>A | ||
| XR_001753292.2:n.1046-1186G>A | ||
| XR_001753293.1:n.1002-1186G>A | ||
| NM_032933.6:c.831-1186G>A MANE Select | NP_116322.3:n.831-1186G>A | |
| NM_001318834.2:c.468-1186G>A | NP_001305763.1:n.468-1186G>A | |
| NR_134875.2:n.891-1186G>A | ||
| NR_134876.2:n.811-1186G>A | ||
| NR_134877.2:n.894-1186G>A | ||
| NR_148382.2:n.815-1186G>A | ||
| NR_148383.2:n.893-1186G>A | ||
| NR_148384.2:n.844-1186G>A | ||
| NR_148385.2:n.858-1186G>A |