Linked Data
ClinVar Variation Id:
2136889
ClinVar RCV Id:
RCV003037347
dbSNP Id:
rs1381655860
gnomAD v2:
10-73569588-G-A
gnomAD v3:
10-71809831-G-A
gnomAD v4:
10-71809831-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71809831G>A , CM000672.2:g.71809831G>A | GRCh38 |
| NC_000010.10:g.73569588G>A , CM000672.1:g.73569588G>A | GRCh37 |
| NC_000010.9:g.73239594G>A | NCBI36 |
| NG_008835.1:g.417885G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.8734G>A MANE Select | ENSP00000224721.9:p.Gly2912Ser | |
| ENST00000642965.1:c.2667G>A | ENSP00000495222.1:n.2667G>A | |
| ENST00000647092.1:c.2331G>A | ENSP00000495176.1:n.2331G>A | |
| ENST00000224721.10:c.8749G>A | ENSP00000224721.8:p.Gly2917Ser | |
| ENST00000398788.4:c.2014G>A | ENSP00000381768.3:p.Gly672Ser | |
| ENST00000475158.1:n.2270G>A | ||
| ENST00000619887.4:c.2014G>A | ENSP00000478374.1:p.Gly672Ser | |
| ENST00000622827.4:c.8734G>A | ENSP00000483211.1:p.Gly2912Ser | |
| NM_001171933.1:c.2014G>A | NP_001165404.1:p.Gly672Ser | |
| NM_001171934.1:c.2014G>A | NP_001165405.1:p.Gly672Ser | |
| NM_022124.5:c.8734G>A | NP_071407.4:p.Gly2912Ser | |
| XM_006717940.2:c.8929G>A | XP_006718003.1:p.Gly2977Ser | |
| XM_006717942.2:c.8863G>A | XP_006718005.1:p.Gly2955Ser | |
| XM_011540039.1:c.8926G>A | XP_011538341.1:p.Gly2976Ser | |
| XM_011540040.1:c.8923G>A | XP_011538342.1:p.Gly2975Ser | |
| XM_011540041.1:c.8869G>A | XP_011538343.1:p.Gly2957Ser | |
| XM_011540042.1:c.8839G>A | XP_011538344.1:p.Gly2947Ser | |
| XM_011540043.1:c.8929G>A | XP_011538345.1:p.Gly2977Ser | |
| XM_011540044.1:c.8794G>A | XP_011538346.1:p.Gly2932Ser | |
| XM_011540045.1:c.8929G>A | XP_011538347.1:p.Gly2977Ser | |
| XM_011540046.1:c.8389G>A | XP_011538348.1:p.Gly2797Ser | |
| XM_011540047.1:c.7747G>A | XP_011538349.1:p.Gly2583Ser | |
| XM_011540052.1:c.5257G>A | XP_011538354.1:p.Gly1753Ser | |
| NM_022124.6:c.8734G>A MANE Select | NP_071407.4:p.Gly2912Ser |