gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37363818 (SAS)
Genomes Max Group AF
0.37363818 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.65329685C>T , CM000667.2:g.65329685C>T | GRCh38 |
| NC_000005.9:g.64625512C>T , CM000667.1:g.64625512C>T | GRCh37 |
| NC_000005.8:g.64661268C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381055.8:c.1118-202G>A MANE Select | ENSP00000370443.3:n.1118-202G>A | |
| ENST00000381052.8:c.*244-202G>A | ENSP00000424377.1:n.*244-202G>A | |
| ENST00000381055.7:c.1118-202G>A | ENSP00000370443.3:n.1118-202G>A | |
| ENST00000464680.6:n.1136-202G>A | ||
| ENST00000470597.5:n.1139-202G>A | ||
| NM_197941.2:c.1118-202G>A | NP_922932.2:n.1118-202G>A | |
| XM_011543113.1:c.1118-202G>A | XP_011541415.1:n.1118-202G>A | |
| XM_011543114.1:c.1118-202G>A | XP_011541416.1:n.1118-202G>A | |
| XM_011543115.1:c.1118-202G>A | XP_011541417.1:n.1118-202G>A | |
| XM_011543116.1:c.1118-202G>A | XP_011541418.1:n.1118-202G>A | |
| XM_011543117.1:c.665-202G>A | XP_011541419.1:n.665-202G>A | |
| XM_011543118.1:c.1118-202G>A | XP_011541420.1:n.1118-202G>A | |
| XM_011543119.1:c.1118-202G>A | XP_011541421.1:n.1118-202G>A | |
| XM_011543120.1:c.1118-202G>A | XP_011541422.1:n.1118-202G>A | |
| XM_011543121.1:c.344-202G>A | XP_011541423.1:n.344-202G>A | |
| XM_011543122.1:c.1118-202G>A | XP_011541424.1:n.1118-202G>A | |
| XM_011543123.1:c.-20-202G>A | XP_011541425.1:n.-20-202G>A | |
| XM_011543126.1:c.1118-202G>A | XP_011541428.1:n.1118-202G>A | |
| XM_011543127.1:c.1118-202G>A | XP_011541429.1:n.1118-202G>A | |
| XR_948232.1:n.2073-202G>A | ||
| XR_948233.1:n.2081-202G>A | ||
| NM_197941.3:c.1118-202G>A | NP_922932.2:n.1118-202G>A | |
| NR_135689.1:n.1980-202G>A | ||
| XM_011543113.3:c.1118-202G>A | XP_011541415.1:n.1118-202G>A | |
| XM_011543114.3:c.1118-202G>A | XP_011541416.1:n.1118-202G>A | |
| XM_011543115.3:c.1118-202G>A | XP_011541417.1:n.1118-202G>A | |
| XM_011543116.3:c.1118-202G>A | XP_011541418.1:n.1118-202G>A | |
| XM_011543117.2:c.665-202G>A | XP_011541419.1:n.665-202G>A | |
| XM_011543119.3:c.1118-202G>A | XP_011541421.1:n.1118-202G>A | |
| XM_011543120.3:c.1118-202G>A | XP_011541422.1:n.1118-202G>A | |
| XM_011543121.2:c.356-202G>A | XP_011541423.2:n.356-202G>A | |
| XM_011543122.3:c.1118-202G>A | XP_011541424.1:n.1118-202G>A | |
| XM_011543123.2:c.-20-202G>A | XP_011541425.1:n.-20-202G>A | |
| XM_011543126.3:c.1118-202G>A | XP_011541428.1:n.1118-202G>A | |
| XM_011543127.3:c.1118-202G>A | XP_011541429.1:n.1118-202G>A | |
| XR_948232.3:n.2028-202G>A | ||
| XR_948233.3:n.2014-202G>A | ||
| NM_197941.4:c.1118-202G>A MANE Select | NP_922932.2:n.1118-202G>A | |
| NR_135689.2:n.1980-202G>A |