Linked Data
dbSNP Id:
rs192533631
gnomAD v2:
21-36260953-G-A
gnomAD v3:
21-34888656-G-A
gnomAD v4:
21-34888656-G-A
ERepo:
CA14902396/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34888656G>A , CM000683.2:g.34888656G>A | GRCh38 |
| NC_000021.8:g.36260953G>A , CM000683.1:g.36260953G>A | GRCh37 |
| NC_000021.7:g.35182823G>A | NCBI36 |
| NG_011402.2:g.1101056C>T , LRG_482:g.1101056C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.98-1560C>T MANE Select | ENSP00000501943.1:n.98-1560C>T | |
| ENST00000300305.7:c.98-1560C>T | ENSP00000300305.3:n.98-1560C>T | |
| ENST00000344691.8:c.-1544C>T | ENSP00000340690.4:n.-1544C>T | |
| ENST00000358356.9:c.-1544C>T | ENSP00000351123.5:n.-1544C>T | |
| ENST00000399237.6:c.61+1021C>T | ENSP00000382182.2:n.61+1021C>T | |
| ENST00000437180.5:c.98-1560C>T | ENSP00000409227.1:n.98-1560C>T | |
| ENST00000455571.5:c.59-1560C>T | ENSP00000388189.1:n.59-1560C>T | |
| ENST00000475045.6:c.98-1560C>T | ENSP00000477072.1:n.98-1560C>T | |
| ENST00000482318.5:c.59-7943C>T | ENSP00000477067.1:n.59-7943C>T | |
| NM_001001890.2:c.-1544C>T | NP_001001890.1:n.-1544C>T | |
| NM_001122607.1:c.-1544C>T | NP_001116079.1:n.-1544C>T | |
| NM_001754.4:c.98-1560C>T , LRG_482t1:c.98-1560C>T | NP_001745.2:n.98-1560C>T | |
| XM_005261068.3:c.61+1021C>T | XP_005261125.1:n.61+1021C>T | |
| XM_005261069.3:c.98-1560C>T | XP_005261126.1:n.98-1560C>T | |
| XM_011529766.1:c.98-1560C>T | XP_011528068.1:n.98-1560C>T | |
| XM_011529767.1:c.59-1560C>T | XP_011528069.1:n.59-1560C>T | |
| XM_011529768.1:c.59-1560C>T | XP_011528070.1:n.59-1560C>T | |
| XM_011529769.1:c.*150C>T | XP_011528071.1:n.*150C>T | |
| XM_011529770.1:c.98-1560C>T | XP_011528072.1:n.98-1560C>T | |
| XR_937576.1:n.277-1560C>T | ||
| XM_005261069.4:c.98-1560C>T | XP_005261126.1:n.98-1560C>T | |
| XM_011529766.2:c.98-1560C>T | XP_011528068.1:n.98-1560C>T | |
| XM_011529767.2:c.59-1560C>T | XP_011528069.1:n.59-1560C>T | |
| XM_011529768.2:c.59-1560C>T | XP_011528070.1:n.59-1560C>T | |
| XM_011529770.2:c.98-1560C>T | XP_011528072.1:n.98-1560C>T | |
| XR_937576.2:n.324-1560C>T | ||
| NM_001001890.3:c.-1544C>T | NP_001001890.1:n.-1544C>T | |
| NM_001122607.2:c.-1544C>T | NP_001116079.1:n.-1544C>T | |
| NM_001754.5:c.98-1560C>T MANE Select | NP_001745.2:n.98-1560C>T |