Linked Data
dbSNP Id:
rs139701214
gnomAD v2:
21-46966153-G-A
gnomAD v3:
21-45546239-G-A
gnomAD v4:
21-45546239-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45546239G>A , CM000683.2:g.45546239G>A | GRCh38 |
| NC_000021.8:g.46966153G>A , CM000683.1:g.46966153G>A | GRCh37 |
| NC_000021.7:g.45790581G>A | NCBI36 |
| NG_028278.1:g.1233C>T | |
| NG_028278.2:g.21905C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650808.1:c.-49-8231C>T | ENSP00000498221.1:n.-49-8231C>T | |
| XM_011529697.1:c.-125-1614C>T | XP_011527999.1:n.-125-1614C>T | |
| XM_011529700.1:c.-49-8231C>T | XP_011528002.1:n.-49-8231C>T | |
| XM_011529705.1:c.-137-1602C>T | XP_011528007.1:n.-137-1602C>T | |
| XM_011529707.1:c.-137-1602C>T | XP_011528009.1:n.-137-1602C>T | |
| XM_011529709.1:c.-407-8231C>T | XP_011528011.1:n.-407-8231C>T | |
| XM_011529710.1:c.-165-14091C>T | XP_011528012.1:n.-165-14091C>T | |
| NM_001352511.1:c.-49-8231C>T | NP_001339440.1:n.-49-8231C>T | |
| XM_011529700.2:c.-49-8231C>T | XP_011528002.1:n.-49-8231C>T | |
| XM_011529709.2:c.-407-8231C>T | XP_011528011.1:n.-407-8231C>T | |
| NM_001352511.2:c.-49-8231C>T | NP_001339440.1:n.-49-8231C>T | |
| NM_001352511.3:c.-49-8231C>T | NP_001339440.1:n.-49-8231C>T |