Linked Data
ClinVar Variation Id:
388363
ClinVar RCV Id:
RCV000436734
dbSNP Id:
rs756643495
ExAC:
15:38641634 T / C
gnomAD v2:
15-38641634-T-C
gnomAD v3:
15-38349433-T-C
gnomAD v4:
15-38349433-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38349433T>C , CM000677.2:g.38349433T>C | GRCh38 |
| NC_000015.9:g.38641634T>C , CM000677.1:g.38641634T>C | GRCh37 |
| NC_000015.8:g.36428926T>C | NCBI36 |
| NG_008980.1:g.101583T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.594T>C MANE Select | ENSP00000299084.4:p.Gly198= | |
| ENST00000299084.8:c.594T>C | ENSP00000299084.4:p.Gly198= | |
| NM_152594.2:c.594T>C | NP_689807.1:p.Gly198= | |
| XM_005254202.2:c.630T>C | XP_005254259.1:p.Gly210= | |
| XM_005254203.3:c.372T>C | XP_005254260.1:p.Gly124= | |
| XM_011521288.1:c.531T>C | XP_011519590.1:p.Gly177= | |
| XM_011521289.1:c.531T>C | XP_011519591.1:p.Gly177= | |
| XM_011521290.1:c.531T>C | XP_011519592.1:p.Gly177= | |
| XM_005254202.3:c.630T>C | XP_005254259.1:p.Gly210= | |
| XM_011521289.3:c.531T>C | XP_011519591.1:p.Gly177= | |
| NM_152594.3:c.594T>C MANE Select | NP_689807.1:p.Gly198= |