Linked Data
ClinVar Variation Id:
3151204
ClinVar RCV Id:
RCV004445593
dbSNP Id:
rs746116582
ExAC:
17:17696840 T / C
gnomAD v2:
17-17696840-T-C
gnomAD v3:
17-17793526-T-C
gnomAD v4:
17-17793526-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17793526T>C , CM000679.2:g.17793526T>C | GRCh38 |
| NC_000017.10:g.17696840T>C , CM000679.1:g.17696840T>C | GRCh37 |
| NC_000017.9:g.17637565T>C | NCBI36 |
| NG_007101.2:g.117054T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353383.6:c.578T>C MANE Select | ENSP00000323074.4:p.Leu193Pro | |
| ENST00000640861.1:c.578T>C | ENSP00000491773.1:p.Leu193Pro | |
| ENST00000353383.5:c.578T>C | ENSP00000323074.4:p.Leu193Pro | |
| ENST00000395774.1:c.578T>C | ENSP00000379120.1:p.Leu193Pro | |
| NM_030665.3:c.578T>C | NP_109590.3:p.Leu193Pro | |
| XM_017024025.1:c.578T>C | XP_016879514.1:p.Leu193Pro | |
| XM_017024026.1:c.578T>C | XP_016879515.1:p.Leu193Pro | |
| XM_017024027.1:c.578T>C | XP_016879516.1:p.Leu193Pro | |
| XM_017024028.2:c.578T>C | XP_016879517.1:p.Leu193Pro | |
| NM_030665.4:c.578T>C MANE Select | NP_109590.3:p.Leu193Pro |