Linked Data
ClinVar Variation Id:
2889439
ClinVar RCV Id:
RCV003717826
dbSNP Id:
rs369578650
gnomAD v2:
17-37829435-G-A
gnomAD v3:
17-39673182-G-A
gnomAD v4:
17-39673182-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39673182G>A , CM000679.2:g.39673182G>A | GRCh38 |
| NC_000017.10:g.37829435G>A , CM000679.1:g.37829435G>A | GRCh37 |
| NC_000017.9:g.35082961G>A | NCBI36 |
| NG_034125.1:g.19889C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300658.9:c.768C>T MANE Select | ENSP00000300658.4:p.Cys256= | |
| ENST00000300658.8:c.768C>T | ENSP00000300658.4:p.Cys256= | |
| ENST00000309862.10:n.1153C>T | ||
| ENST00000378011.8:c.615C>T | ENSP00000367250.4:p.Cys205= | |
| ENST00000429199.6:c.705C>T | ENSP00000415765.2:p.Cys235= | |
| ENST00000577337.5:c.580C>T | ENSP00000464308.1:n.580C>T | |
| ENST00000579146.5:c.433-316C>T | ENSP00000463234.1:n.433-316C>T | |
| ENST00000614824.4:c.765C>T | ENSP00000480165.1:p.Cys255= | |
| ENST00000619169.4:c.-307C>T | ENSP00000478028.1:n.-307C>T | |
| NM_001291726.1:c.615C>T | NP_001278655.1:p.Cys205= | |
| NM_001291728.1:c.705C>T | NP_001278657.1:p.Cys235= | |
| NM_001291730.1:c.558-316C>T | NP_001278659.1:n.558-316C>T | |
| NM_001291732.1:c.495-316C>T | NP_001278661.1:n.495-316C>T | |
| NM_001291733.1:c.433-316C>T | NP_001278662.1:n.433-316C>T | |
| NM_033419.4:c.768C>T | NP_219487.3:p.Cys256= | |
| XM_011525480.1:c.695-316C>T | XP_011523782.1:n.695-316C>T | |
| XM_011525481.1:c.423C>T | XP_011523783.1:p.Cys141= | |
| XR_934601.1:n.953C>T | ||
| XM_011525480.2:c.695-316C>T | XP_011523782.1:n.695-316C>T | |
| XM_011525481.2:c.423C>T | XP_011523783.1:p.Cys141= | |
| XR_002958086.1:n.1295C>T | ||
| NM_033419.5:c.768C>T MANE Select | NP_219487.3:p.Cys256= | |
| NM_001291726.2:c.615C>T | NP_001278655.1:p.Cys205= | |
| NM_001291728.2:c.705C>T | NP_001278657.1:p.Cys235= | |
| NM_001291730.2:c.558-316C>T | NP_001278659.1:n.558-316C>T | |
| NM_001291732.2:c.495-316C>T | NP_001278661.1:n.495-316C>T | |
| NM_001291733.2:c.433-316C>T | NP_001278662.1:n.433-316C>T |