Linked Data
ClinVar Variation Id:
1476804
ClinVar RCV Id:
RCV001978126
dbSNP Id:
rs372665535
ExAC:
15:38643396 A / C
gnomAD v2:
15-38643396-A-C
gnomAD v3:
15-38351195-A-C
gnomAD v4:
15-38351195-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351195A>C , CM000677.2:g.38351195A>C | GRCh38 |
| NC_000015.9:g.38643396A>C , CM000677.1:g.38643396A>C | GRCh37 |
| NC_000015.8:g.36430688A>C | NCBI36 |
| NG_008980.1:g.103345A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.866A>C MANE Select | ENSP00000299084.4:p.Lys289Thr | |
| ENST00000299084.8:c.866A>C | ENSP00000299084.4:p.Lys289Thr | |
| NM_152594.2:c.866A>C | NP_689807.1:p.Lys289Thr | |
| XM_005254202.2:c.902A>C | XP_005254259.1:p.Lys301Thr | |
| XM_005254203.3:c.644A>C | XP_005254260.1:p.Lys215Thr | |
| XM_011521288.1:c.803A>C | XP_011519590.1:p.Lys268Thr | |
| XM_011521289.1:c.803A>C | XP_011519591.1:p.Lys268Thr | |
| XM_011521290.1:c.803A>C | XP_011519592.1:p.Lys268Thr | |
| XM_005254202.3:c.902A>C | XP_005254259.1:p.Lys301Thr | |
| XM_011521289.3:c.803A>C | XP_011519591.1:p.Lys268Thr | |
| NM_152594.3:c.866A>C MANE Select | NP_689807.1:p.Lys289Thr |