Linked Data
ClinVar Variation Id:
230633
dbSNP Id:
rs772018727
ExAC:
10:89720757 T / G
gnomAD v2:
10-89720757-T-G
gnomAD v4:
10-87961000-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961000T>G , CM000672.2:g.87961000T>G | GRCh38 |
| NC_000010.10:g.89720757T>G , CM000672.1:g.89720757T>G | GRCh37 |
| NC_000010.9:g.89710737T>G | NCBI36 |
| NG_007466.2:g.102562T>G , LRG_311:g.102562T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1001T>G | ENSP00000514759.2:p.Ile334Ser | |
| ENST00000710265.1:c.908T>G | ENSP00000518161.1:p.Ile303Ser | |
| ENST00000472832.3:c.908T>G | ENSP00000483066.2:p.Ile303Ser | |
| ENST00000688158.2:n.1643T>G | ||
| ENST00000688922.2:c.*738T>G | ENSP00000508742.2:n.*738T>G | |
| ENST00000700021.1:c.863T>G | ENSP00000514757.1:p.Ile288Ser | |
| ENST00000700022.1:c.*247T>G | ENSP00000514758.1:n.*247T>G | |
| ENST00000700023.1:n.2066T>G | ||
| ENST00000700024.1:n.2300T>G | ||
| ENST00000700025.1:n.1677T>G | ||
| ENST00000700026.1:n.545T>G | ||
| ENST00000706954.1:c.908T>G | ENSP00000516674.1:p.Ile303Ser | |
| ENST00000706955.1:c.*943T>G | ENSP00000516675.1:n.*943T>G | |
| ENST00000686459.1:c.*494T>G | ENSP00000508909.1:n.*494T>G | |
| ENST00000688158.1:c.*1019T>G | ENSP00000509254.1:n.*1019T>G | |
| ENST00000688308.1:c.908T>G | ENSP00000508752.1:p.Ile303Ser | |
| ENST00000688922.1:c.829T>G | ||
| ENST00000693560.1:c.1427T>G | ENSP00000509861.1:p.Ile476Ser | |
| ENST00000371953.8:c.908T>G MANE Select | ENSP00000361021.3:p.Ile303Ser | |
| ENST00000371953.7:c.908T>G | ENSP00000361021.3:p.Ile303Ser | |
| ENST00000472832.2:c.335T>G | ENSP00000483066.1:p.Ile112Ser | |
| NM_000314.5:c.908T>G | NP_000305.3:p.Ile303Ser | |
| NM_000314.6:c.908T>G | NP_000305.3:p.Ile303Ser | |
| NM_001304717.2:c.1427T>G | NP_001291646.2:p.Ile476Ser | |
| NM_001304718.1:c.317T>G | NP_001291647.1:p.Ile106Ser | |
| XM_006717926.2:c.863T>G | XP_006717989.1:p.Ile288Ser | |
| XM_011539981.1:c.908T>G | XP_011538283.1:p.Ile303Ser | |
| XM_011539982.1:c.812T>G | XP_011538284.1:p.Ile271Ser | |
| XR_945791.1:n.1478T>G | ||
| NM_000314.7:c.908T>G | NP_000305.3:p.Ile303Ser | |
| NM_001304717.5:c.1427T>G | NP_001291646.4:p.Ile476Ser | |
| NM_001304718.2:c.317T>G | NP_001291647.1:p.Ile106Ser | |
| NM_000314.8:c.908T>G MANE Select | NP_000305.3:p.Ile303Ser |