Linked Data
dbSNP Id:
rs1023159
gnomAD v2:
21-46966180-G-A
gnomAD v3:
21-45546266-G-A
gnomAD v4:
21-45546266-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45546266G>A , CM000683.2:g.45546266G>A | GRCh38 |
| NC_000021.8:g.46966180G>A , CM000683.1:g.46966180G>A | GRCh37 |
| NC_000021.7:g.45790608G>A | NCBI36 |
| NG_028278.1:g.1206C>T | |
| NG_028278.2:g.21878C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650808.1:c.-49-8258C>T | ENSP00000498221.1:n.-49-8258C>T | |
| XM_011529697.1:c.-125-1641C>T | XP_011527999.1:n.-125-1641C>T | |
| XM_011529700.1:c.-49-8258C>T | XP_011528002.1:n.-49-8258C>T | |
| XM_011529705.1:c.-137-1629C>T | XP_011528007.1:n.-137-1629C>T | |
| XM_011529707.1:c.-137-1629C>T | XP_011528009.1:n.-137-1629C>T | |
| XM_011529709.1:c.-407-8258C>T | XP_011528011.1:n.-407-8258C>T | |
| XM_011529710.1:c.-165-14118C>T | XP_011528012.1:n.-165-14118C>T | |
| NM_001352511.1:c.-49-8258C>T | NP_001339440.1:n.-49-8258C>T | |
| XM_011529700.2:c.-49-8258C>T | XP_011528002.1:n.-49-8258C>T | |
| XM_011529709.2:c.-407-8258C>T | XP_011528011.1:n.-407-8258C>T | |
| NM_001352511.2:c.-49-8258C>T | NP_001339440.1:n.-49-8258C>T | |
| NM_001352511.3:c.-49-8258C>T | NP_001339440.1:n.-49-8258C>T |