Linked Data
ClinVar Variation Id:
138875
dbSNP Id:
rs146212490
ExAC:
17:33428352 G / A
gnomAD v2:
17-33428352-G-A
gnomAD v3:
17-35101333-G-A
gnomAD v4:
17-35101333-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35101333G>A , CM000679.2:g.35101333G>A | GRCh38 |
| NC_000017.10:g.33428352G>A , CM000679.1:g.33428352G>A | GRCh37 |
| NC_000017.9:g.30452465G>A | NCBI36 |
| NG_031858.1:g.23537C>T , LRG_516:g.23537C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.636C>T | ENSP00000468273.3:p.Ser212= | |
| ENST00000587405.6:c.414C>T | ENSP00000466478.2:p.Ser138= | |
| ENST00000590016.6:c.831C>T | ENSP00000466399.1:p.Ser277= | |
| ENST00000592577.6:c.414C>T | ENSP00000466839.2:p.Ser138= | |
| ENST00000345365.11:c.771C>T MANE Select | ENSP00000338790.6:p.Ser257= | |
| ENST00000335858.11:c.435C>T | ENSP00000338408.6:p.Ser145= | |
| ENST00000345365.10:c.771C>T | ENSP00000338790.6:p.Ser257= | |
| ENST00000394589.8:c.771C>T | ENSP00000378090.4:p.Ser257= | |
| ENST00000460118.6:c.240C>T | ENSP00000464356.2:p.Ser80= | |
| ENST00000586044.5:c.*502C>T | ENSP00000465584.1:n.*502C>T | |
| ENST00000586210.5:c.*365C>T | ENSP00000465612.1:n.*365C>T | |
| ENST00000587405.5:c.414C>T | ENSP00000466478.1:p.Ser138= | |
| ENST00000587977.5:c.*511C>T | ENSP00000466587.1:n.*511C>T | |
| ENST00000588372.5:c.*254C>T | ENSP00000468764.1:n.*254C>T | |
| ENST00000588594.5:c.*367C>T | ENSP00000465366.1:n.*367C>T | |
| ENST00000590016.5:c.831C>T | ENSP00000466399.1:p.Ser277= | |
| ENST00000591723.5:c.240C>T | ENSP00000467986.1:p.Ser80= | |
| ENST00000592181.1:c.414C>T | ENSP00000464799.1:p.Ser138= | |
| ENST00000593039.5:c.294C>T | ENSP00000466834.1:p.Ser98= | |
| NM_001142571.1:c.831C>T | NP_001136043.1:p.Ser277= | |
| NM_002878.3:c.771C>T , LRG_516t1:c.771C>T | NP_002869.3:p.Ser257= | |
| NM_133629.2:c.435C>T | NP_598332.1:p.Ser145= | |
| NR_037711.1:n.908C>T | ||
| NR_037712.1:n.773C>T | ||
| NR_037714.1:n.523C>T | ||
| NM_001142571.2:c.831C>T | NP_001136043.1:p.Ser277= | |
| NM_133629.3:c.435C>T | NP_598332.1:p.Ser145= | |
| NR_037711.2:n.797C>T | ||
| NR_037712.2:n.662C>T | ||
| NM_002878.4:c.771C>T MANE Select | NP_002869.3:p.Ser257= |