Linked Data
dbSNP Id:
rs1026091677
gnomAD v2:
12-20860139-C-T
gnomAD v3:
12-20707205-C-T
gnomAD v4:
12-20707205-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20707205C>T , CM000674.2:g.20707205C>T | GRCh38 |
| NC_000012.11:g.20860139C>T , CM000674.1:g.20860139C>T | GRCh37 |
| NC_000012.10:g.20751406C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266509.7:c.404+1124C>T MANE Select | ENSP00000266509.2:n.404+1124C>T | |
| ENST00000266509.6:c.404+1124C>T | ENSP00000266509.2:n.404+1124C>T | |
| ENST00000539415.5:c.130-4181C>T | ENSP00000437399.1:n.130-4181C>T | |
| ENST00000540354.5:c.404+1124C>T | ENSP00000438665.1:n.404+1124C>T | |
| ENST00000545102.1:c.50+1124C>T | ENSP00000444527.1:n.50+1124C>T | |
| ENST00000545604.5:c.404+1124C>T | ENSP00000444149.1:n.404+1124C>T | |
| NM_001145944.1:c.50+1124C>T | NP_001139416.1:n.50+1124C>T | |
| NM_001145945.1:c.404+1124C>T | NP_001139417.1:n.404+1124C>T | |
| NM_001145946.1:c.404+1124C>T | NP_001139418.1:n.404+1124C>T | |
| NM_017435.4:c.404+1124C>T | NP_059131.1:n.404+1124C>T | |
| XM_005253394.1:c.404+1124C>T | XP_005253451.1:n.404+1124C>T | |
| XM_005253396.1:c.50+1124C>T | XP_005253453.1:n.50+1124C>T | |
| XM_005253397.2:c.404+1124C>T | XP_005253454.1:n.404+1124C>T | |
| XM_011520703.1:c.404+1124C>T | XP_011519005.1:n.404+1124C>T | |
| XM_011520704.1:c.404+1124C>T | XP_011519006.1:n.404+1124C>T | |
| XM_011520705.1:c.404+1124C>T | XP_011519007.1:n.404+1124C>T | |
| XM_011520706.1:c.50+1124C>T | XP_011519008.1:n.50+1124C>T | |
| XM_011520707.1:c.50+1124C>T | XP_011519009.1:n.50+1124C>T | |
| XM_011520708.1:c.50+1124C>T | XP_011519010.1:n.50+1124C>T | |
| XM_011520709.1:c.50+1124C>T | XP_011519011.1:n.50+1124C>T | |
| XM_011520710.1:c.404+1124C>T | XP_011519012.1:n.404+1124C>T | |
| XM_011520711.1:c.-150+1124C>T | XP_011519013.1:n.-150+1124C>T | |
| XR_931308.1:n.759+1124C>T | ||
| XM_005253394.3:c.404+1124C>T | XP_005253451.1:n.404+1124C>T | |
| XM_005253396.3:c.50+1124C>T | XP_005253453.1:n.50+1124C>T | |
| XM_011520703.3:c.404+1124C>T | XP_011519005.1:n.404+1124C>T | |
| XM_011520704.3:c.404+1124C>T | XP_011519006.1:n.404+1124C>T | |
| XM_011520711.3:c.-150+1124C>T | XP_011519013.1:n.-150+1124C>T | |
| XM_017019486.2:c.50+1124C>T | XP_016874975.1:n.50+1124C>T | |
| XM_017019487.2:c.50+1124C>T | XP_016874976.1:n.50+1124C>T | |
| XM_017019489.2:c.-307+1124C>T | XP_016874978.1:n.-307+1124C>T | |
| XM_017019490.2:c.-271+1124C>T | XP_016874979.1:n.-271+1124C>T | |
| XM_024449024.1:c.50+1124C>T | XP_024304792.1:n.50+1124C>T | |
| XM_024449025.1:c.50+1124C>T | XP_024304793.1:n.50+1124C>T | |
| XR_001748768.2:n.13817+1124C>T | ||
| XR_001748769.2:n.13817+1124C>T | ||
| XR_001748770.2:n.13817+1124C>T | ||
| XR_001748771.2:n.14314+1124C>T | ||
| NM_001145944.2:c.50+1124C>T | NP_001139416.1:n.50+1124C>T | |
| NM_001145945.2:c.404+1124C>T | NP_001139417.1:n.404+1124C>T | |
| NM_001145946.2:c.404+1124C>T | NP_001139418.1:n.404+1124C>T | |
| NM_017435.5:c.404+1124C>T MANE Select | NP_059131.1:n.404+1124C>T |