Linked Data
ClinVar Variation Id:
1512630
ClinVar RCV Id:
RCV002023132
dbSNP Id:
rs1434097987
gnomAD v2:
1-36932860-C-T
gnomAD v3:
1-36467259-C-T
gnomAD v4:
1-36467259-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36467259C>T , CM000663.2:g.36467259C>T | GRCh38 |
| NC_000001.10:g.36932860C>T , CM000663.1:g.36932860C>T | GRCh37 |
| NC_000001.9:g.36705447C>T | NCBI36 |
| NG_016270.1:g.20650G>A , LRG_144:g.20650G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464465.7:c.1909G>A | ENSP00000435218.2:p.Gly637Ser | |
| ENST00000487540.7:c.*305G>A | ENSP00000514169.2:n.*305G>A | |
| ENST00000699089.1:n.2991G>A | ||
| ENST00000699090.1:c.1615G>A | ENSP00000514168.1:p.Gly539Ser | |
| ENST00000373106.6:c.2011G>A MANE Select | ENSP00000362198.2:p.Gly671Ser | |
| ENST00000331941.6:c.2011G>A | ENSP00000332180.5:p.Gly671Ser | |
| ENST00000361632.8:c.2011G>A | ENSP00000355406.4:p.Gly671Ser | |
| ENST00000373103.5:c.2011G>A | ENSP00000362195.1:p.Gly671Ser | |
| ENST00000373104.5:c.2011G>A | ENSP00000362196.1:p.Gly671Ser | |
| ENST00000373106.5:c.2011G>A | ENSP00000362198.1:p.Gly671Ser | |
| ENST00000464465.6:c.666G>A | ||
| ENST00000466138.1:n.305G>A | ||
| ENST00000480825.6:n.4859G>A | ||
| ENST00000484762.1:n.402G>A | ||
| ENST00000487540.6:n.1192G>A | ||
| NM_000760.3:c.2011G>A | NP_000751.1:p.Gly671Ser | |
| NM_156039.3:c.2011G>A , LRG_144t1:c.2011G>A | NP_724781.1:p.Gly671Ser | |
| NM_172313.2:c.2011G>A | NP_758519.1:p.Gly671Ser | |
| XM_005270493.1:c.2008G>A | XP_005270550.1:p.Gly670Ser | |
| XM_011540748.1:c.2011G>A | XP_011539050.1:p.Gly671Ser | |
| XM_011540749.1:c.2008G>A | XP_011539051.1:p.Gly670Ser | |
| XM_011540750.1:c.1339G>A | XP_011539052.1:p.Gly447Ser | |
| XM_011540748.3:c.2011G>A | XP_011539050.1:p.Gly671Ser | |
| XM_017000370.1:c.2011G>A | XP_016855859.1:p.Gly671Ser | |
| NM_000760.4:c.2011G>A MANE Select | NP_000751.1:p.Gly671Ser | |
| NM_172313.3:c.2011G>A | NP_758519.1:p.Gly671Ser |