Linked Data
dbSNP Id:
rs2412971
gnomAD v2:
22-30494371-G-A
gnomAD v3:
22-30098382-G-A
gnomAD v4:
22-30098382-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30098382G>A , CM000684.2:g.30098382G>A | GRCh38 |
| NC_000022.10:g.30494371G>A , CM000684.1:g.30494371G>A | GRCh37 |
| NC_000022.9:g.28824371G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336726.11:c.52-470G>A MANE Select | ENSP00000336984.6:n.52-470G>A | |
| ENST00000336726.10:c.52-470G>A | ENSP00000336984.6:n.52-470G>A | |
| ENST00000403975.1:c.52-470G>A | ENSP00000385055.1:n.52-470G>A | |
| ENST00000450612.5:c.52-470G>A | ENSP00000393415.1:n.52-470G>A | |
| ENST00000491605.1:n.47-470G>A | ||
| NM_152510.2:c.52-470G>A | NP_689723.1:n.52-470G>A | |
| XM_006724147.2:c.52-470G>A | XP_006724210.2:n.52-470G>A | |
| XM_011529913.1:c.52-470G>A | XP_011528215.1:n.52-470G>A | |
| XM_011529914.1:c.52-470G>A | XP_011528216.1:n.52-470G>A | |
| XM_011529915.1:c.52-470G>A | XP_011528217.1:n.52-470G>A | |
| XM_011529916.1:c.52-470G>A | XP_011528218.1:n.52-470G>A | |
| XM_011529917.1:c.52-470G>A | XP_011528219.1:n.52-470G>A | |
| XM_011529918.1:c.52-470G>A | XP_011528220.1:n.52-470G>A | |
| XM_011529919.1:c.-176-470G>A | XP_011528221.1:n.-176-470G>A | |
| NM_001329457.1:c.52-470G>A | NP_001316386.1:n.52-470G>A | |
| NM_001329458.1:c.-176-470G>A | NP_001316387.1:n.-176-470G>A | |
| NM_152510.3:c.52-470G>A | NP_689723.1:n.52-470G>A | |
| XM_011529914.2:c.52-470G>A | XP_011528216.1:n.52-470G>A | |
| XM_011529917.3:c.52-470G>A | XP_011528219.1:n.52-470G>A | |
| XM_017028621.1:c.52-470G>A | XP_016884110.1:n.52-470G>A | |
| XM_017028622.1:c.52-470G>A | XP_016884111.1:n.52-470G>A | |
| XM_017028624.1:c.-176-470G>A | XP_016884113.1:n.-176-470G>A | |
| NM_001329457.2:c.52-470G>A | NP_001316386.1:n.52-470G>A | |
| NM_001329458.2:c.-176-470G>A | NP_001316387.1:n.-176-470G>A | |
| NM_152510.4:c.52-470G>A MANE Select | NP_689723.1:n.52-470G>A |