Linked Data
ClinVar Variation Id:
3229264
ClinVar RCV Id:
RCV004524843
dbSNP Id:
rs1405547941
gnomAD v2:
15-38643553-G-C
gnomAD v4:
15-38351352-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351352G>C , CM000677.2:g.38351352G>C | GRCh38 |
| NC_000015.9:g.38643553G>C , CM000677.1:g.38643553G>C | GRCh37 |
| NC_000015.8:g.36430845G>C | NCBI36 |
| NG_008980.1:g.103502G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1023G>C MANE Select | ENSP00000299084.4:p.Arg341Ser | |
| ENST00000299084.8:c.1023G>C | ENSP00000299084.4:p.Arg341Ser | |
| NM_152594.2:c.1023G>C | NP_689807.1:p.Arg341Ser | |
| XM_005254202.2:c.1059G>C | XP_005254259.1:p.Arg353Ser | |
| XM_005254203.3:c.801G>C | XP_005254260.1:p.Arg267Ser | |
| XM_011521288.1:c.960G>C | XP_011519590.1:p.Arg320Ser | |
| XM_011521289.1:c.960G>C | XP_011519591.1:p.Arg320Ser | |
| XM_011521290.1:c.960G>C | XP_011519592.1:p.Arg320Ser | |
| XM_005254202.3:c.1059G>C | XP_005254259.1:p.Arg353Ser | |
| XM_011521289.3:c.960G>C | XP_011519591.1:p.Arg320Ser | |
| NM_152594.3:c.1023G>C MANE Select | NP_689807.1:p.Arg341Ser |