Linked Data
dbSNP Id:
rs118048115
gnomAD v2:
10-122279476-A-T
gnomAD v3:
10-120519964-A-T
gnomAD v4:
10-120519964-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.120519964A>T , CM000672.2:g.120519964A>T | GRCh38 |
| NC_000010.10:g.122279476A>T , CM000672.1:g.122279476A>T | GRCh37 |
| NC_000010.9:g.122269466A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398250.6:c.321-1007A>T MANE Select | ENSP00000381302.1:n.321-1007A>T | |
| ENST00000369073.3:c.291-1007A>T | ENSP00000358069.3:n.291-1007A>T | |
| ENST00000398250.5:c.321-1007A>T | ENSP00000381302.1:n.321-1007A>T | |
| ENST00000427079.5:c.321-1007A>T | ENSP00000407979.1:n.321-1007A>T | |
| NM_001030059.1:c.321-1007A>T | NP_001025230.1:n.321-1007A>T | |
| XM_005269592.1:c.321-1007A>T | XP_005269649.1:n.321-1007A>T | |
| XM_006717685.2:c.282-1007A>T | XP_006717748.1:n.282-1007A>T | |
| XM_006717686.2:c.321-1007A>T | XP_006717749.1:n.321-1007A>T | |
| XM_006717688.2:c.-100-691A>T | XP_006717751.1:n.-100-691A>T | |
| XM_011539444.1:c.315-1007A>T | XP_011537746.1:n.315-1007A>T | |
| XM_011539445.1:c.321-1007A>T | XP_011537747.1:n.321-1007A>T | |
| XM_011539446.1:c.256+5963A>T | XP_011537748.1:n.256+5963A>T | |
| XM_011539447.1:c.-135-691A>T | XP_011537749.1:n.-135-691A>T | |
| XM_011539448.1:c.-8-1042A>T | XP_011537750.1:n.-8-1042A>T | |
| NM_001030059.2:c.321-1007A>T | NP_001025230.1:n.321-1007A>T | |
| NM_001318166.1:c.320+1068A>T | NP_001305095.1:n.320+1068A>T | |
| NM_001318167.1:c.256+5963A>T | NP_001305096.1:n.256+5963A>T | |
| NM_001318168.1:c.165+16038A>T | NP_001305097.1:n.165+16038A>T | |
| NM_001318169.1:c.165+16038A>T | NP_001305098.1:n.165+16038A>T | |
| NR_134516.1:n.309+16038A>T | ||
| XM_005269592.2:c.321-1007A>T | XP_005269649.1:n.321-1007A>T | |
| XM_006717685.4:c.282-1007A>T | XP_006717748.1:n.282-1007A>T | |
| XM_006717686.4:c.321-1007A>T | XP_006717749.1:n.321-1007A>T | |
| XM_011539444.3:c.315-1007A>T | XP_011537746.1:n.315-1007A>T | |
| XM_011539445.2:c.321-1007A>T | XP_011537747.1:n.321-1007A>T | |
| XM_017015820.1:c.282-1007A>T | XP_016871309.1:n.282-1007A>T | |
| XM_017015823.1:c.165+16038A>T | XP_016871312.1:n.165+16038A>T | |
| XM_017015824.2:c.165+16038A>T | XP_016871313.1:n.165+16038A>T | |
| XM_024447860.1:c.-43-1007A>T | XP_024303628.1:n.-43-1007A>T | |
| XM_024447861.1:c.-8-1042A>T | XP_024303629.1:n.-8-1042A>T | |
| XM_024447862.1:c.-8-1042A>T | XP_024303630.1:n.-8-1042A>T | |
| NM_001030059.3:c.321-1007A>T MANE Select | NP_001025230.1:n.321-1007A>T | |
| NM_001318166.2:c.320+1068A>T | NP_001305095.1:n.320+1068A>T | |
| NM_001318167.2:c.256+5963A>T | NP_001305096.1:n.256+5963A>T | |
| NM_001318168.2:c.165+16038A>T | NP_001305097.1:n.165+16038A>T | |
| NM_001318169.2:c.165+16038A>T | NP_001305098.1:n.165+16038A>T |