Linked Data
dbSNP Id:
rs7627289
gnomAD v2:
3-167348838-G-A
gnomAD v3:
3-167631050-G-A
gnomAD v4:
3-167631050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.167631050G>A , CM000665.2:g.167631050G>A | GRCh38 |
| NC_000003.11:g.167348838G>A , CM000665.1:g.167348838G>A | GRCh37 |
| NC_000003.10:g.168831532G>A | NCBI36 |
| NG_053014.1:g.31954C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647816.2:c.166-3758C>T | ENSP00000497120.1:n.166-3758C>T | |
| ENST00000682715.1:c.166-3758C>T MANE Select | ENSP00000507497.1:n.166-3758C>T | |
| ENST00000647816.1:c.166-3758C>T | ENSP00000497120.1:n.166-3758C>T | |
| ENST00000308378.7:c.-66+22211C>T | ENSP00000311343.3:n.-66+22211C>T | |
| ENST00000460448.5:c.165+22211C>T | ENSP00000417090.1:n.165+22211C>T | |
| ENST00000466760.5:c.165+22211C>T | ENSP00000418718.1:n.165+22211C>T | |
| ENST00000471198.1:n.410+2359C>T | ||
| ENST00000479765.5:c.166-3758C>T | ENSP00000419749.1:n.166-3758C>T | |
| ENST00000488012.5:c.166-9407C>T | ENSP00000419917.1:n.166-9407C>T | |
| NM_178824.3:c.-66+22211C>T | NP_849146.1:n.-66+22211C>T | |
| NM_001348951.1:c.166-3758C>T | NP_001335880.1:n.166-3758C>T | |
| NM_001348952.1:c.166-3758C>T | NP_001335881.1:n.166-3758C>T | |
| NM_001366157.1:c.166-3758C>T MANE Select | NP_001353086.1:n.166-3758C>T | |
| NM_001366158.1:c.-66+22211C>T | NP_001353087.1:n.-66+22211C>T | |
| NM_001348951.2:c.166-3758C>T | NP_001335880.1:n.166-3758C>T | |
| NM_001348952.2:c.166-3758C>T | NP_001335881.1:n.166-3758C>T |