Linked Data
dbSNP Id:
rs780329233
ExAC:
1:103412358 G / A
gnomAD v2:
1-103412358-G-A
gnomAD v3:
1-102946802-G-A
gnomAD v4:
1-102946802-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102946802G>A , CM000663.2:g.102946802G>A | GRCh38 |
| NC_000001.10:g.103412358G>A , CM000663.1:g.103412358G>A | GRCh37 |
| NC_000001.9:g.103184946G>A | NCBI36 |
| NG_008033.1:g.166695C>T | |
| NG_008033.2:g.166695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3276+47C>T MANE Select | ENSP00000359114.3:n.3276+47C>T | |
| ENST00000353414.8:c.3159+47C>T | ENSP00000302551.6:n.3159+47C>T | |
| ENST00000358392.6:c.3312+47C>T | ENSP00000351163.2:n.3312+47C>T | |
| ENST00000370096.7:c.3276+47C>T | ENSP00000359114.3:n.3276+47C>T | |
| ENST00000512756.5:c.2928+47C>T | ENSP00000426533.1:n.2928+47C>T | |
| ENST00000635193.1:c.2610+47C>T | ||
| NM_001190709.1:c.3159+47C>T | NP_001177638.1:n.3159+47C>T | |
| NM_001854.3:c.3276+47C>T | NP_001845.3:n.3276+47C>T | |
| NM_080629.2:c.3312+47C>T | NP_542196.2:n.3312+47C>T | |
| NM_080630.3:c.2928+47C>T | NP_542197.3:n.2928+47C>T | |
| XM_011540719.1:c.3276+47C>T | XP_011539021.1:n.3276+47C>T | |
| XM_011540720.1:c.1509+47C>T | XP_011539022.1:n.1509+47C>T | |
| XM_011540721.1:c.864+47C>T | XP_011539023.1:n.864+47C>T | |
| NR_134980.1:n.3610+47C>T | ||
| XM_017000334.1:c.3429+47C>T | XP_016855823.1:n.3429+47C>T | |
| XM_017000335.1:c.3423+47C>T | XP_016855824.1:n.3423+47C>T | |
| XM_017000336.1:c.3429+47C>T | XP_016855825.1:n.3429+47C>T | |
| XM_017000337.1:c.1827+47C>T | XP_016855826.1:n.1827+47C>T | |
| NM_001854.4:c.3276+47C>T MANE Select | NP_001845.3:n.3276+47C>T | |
| NM_080630.4:c.2928+47C>T | NP_542197.3:n.2928+47C>T | |
| NR_134980.2:n.3636+47C>T | ||
| NM_001190709.2:c.3159+47C>T | NP_001177638.1:n.3159+47C>T | |
| NM_080629.3:c.3312+47C>T | NP_542196.2:n.3312+47C>T |