Linked Data
ClinVar Variation Id:
1640950
ClinVar RCV Id:
RCV002131971
dbSNP Id:
rs143531056
ExAC:
9:123715031 A / G
gnomAD v2:
9-123715031-A-G
gnomAD v3:
9-120952753-A-G
gnomAD v4:
9-120952753-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120952753A>G , CM000671.2:g.120952753A>G | GRCh38 |
| NC_000009.11:g.123715031A>G , CM000671.1:g.123715031A>G | GRCh37 |
| NC_000009.10:g.122754852A>G | NCBI36 |
| NG_007364.1:g.102524T>C , LRG_28:g.102524T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.6328T>C (C5) | ||
| ENST00000696279.1:c.5337T>C (C5) | ||
| ENST00000696280.1:n.5106T>C (C5) | ||
| ENST00000696281.1:c.5035T>C (C5) | ENSP00000512521.1:p.Leu1679= | |
| ENST00000697921.1:n.3895T>C (C5) | ||
| ENST00000697922.1:c.*5007T>C (C5) | ENSP00000513478.1:n.*5007T>C | |
| ENST00000697923.1:n.8878T>C (C5) | ||
| ENST00000223642.3:c.5017T>C (C5) MANE Select | ENSP00000223642.1:p.Leu1673= | |
| ENST00000223642.2:c.5017T>C (C5) | ENSP00000223642.1:p.Leu1673= | |
| NM_001735.2:c.5017T>C , LRG_28t1:c.5017T>C (C5) | NP_001726.2:p.Leu1673= | |
| XM_011518980.1:c.5032T>C (C5) | XP_011517282.1:p.Leu1678= | |
| NM_001317163.1:c.5035T>C (C5) | NP_001304092.1:p.Leu1679= | |
| NR_148450.1:n.79T>C (C5-OT1) | ||
| NM_001317163.2:c.5035T>C (C5) | NP_001304092.1:p.Leu1679= | |
| NM_001735.3:c.5017T>C (C5) MANE Select | NP_001726.2:p.Leu1673= |