Linked Data
ClinVar Variation Id:
1444040
dbSNP Id:
rs374914766
ExAC:
9:123715037 T / C
gnomAD v2:
9-123715037-T-C
gnomAD v3:
9-120952759-T-C
gnomAD v4:
9-120952759-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120952759T>C , CM000671.2:g.120952759T>C | GRCh38 |
| NC_000009.11:g.123715037T>C , CM000671.1:g.123715037T>C | GRCh37 |
| NC_000009.10:g.122754858T>C | NCBI36 |
| NG_007364.1:g.102518A>G , LRG_28:g.102518A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.6322A>G (C5) | ||
| ENST00000696279.1:c.5331A>G (C5) | ||
| ENST00000696280.1:n.5100A>G (C5) | ||
| ENST00000696281.1:c.5029A>G (C5) | ENSP00000512521.1:p.Ile1677Val | |
| ENST00000697921.1:n.3889A>G (C5) | ||
| ENST00000697922.1:c.*5001A>G (C5) | ENSP00000513478.1:n.*5001A>G | |
| ENST00000697923.1:n.8872A>G (C5) | ||
| ENST00000223642.3:c.5011A>G (C5) MANE Select | ENSP00000223642.1:p.Ile1671Val | |
| ENST00000223642.2:c.5011A>G (C5) | ENSP00000223642.1:p.Ile1671Val | |
| NM_001735.2:c.5011A>G , LRG_28t1:c.5011A>G (C5) | NP_001726.2:p.Ile1671Val | |
| XM_011518980.1:c.5026A>G (C5) | XP_011517282.1:p.Ile1676Val | |
| NM_001317163.1:c.5029A>G (C5) | NP_001304092.1:p.Ile1677Val | |
| NR_148450.1:n.73A>G (C5-OT1) | ||
| NM_001317163.2:c.5029A>G (C5) | NP_001304092.1:p.Ile1677Val | |
| NM_001735.3:c.5011A>G (C5) MANE Select | NP_001726.2:p.Ile1671Val |