Linked Data
ClinVar Variation Id:
2688228
dbSNP Id:
rs2297518
ExAC:
17:26096597 G / A
gnomAD v2:
17-26096597-G-A
gnomAD v3:
17-27769571-G-A
gnomAD v4:
17-27769571-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27769571G>A , CM000679.2:g.27769571G>A | GRCh38 |
| NC_000017.10:g.26096597G>A , CM000679.1:g.26096597G>A | GRCh37 |
| NC_000017.9:g.23120724G>A | NCBI36 |
| NG_011470.1:g.35959C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697337.1:c.*2559C>T | ENSP00000513259.1:n.*2559C>T | |
| ENST00000697338.1:c.1671C>T | ENSP00000513260.1:n.1671C>T | |
| ENST00000697339.1:c.857C>T | ENSP00000513261.1:p.Ser286Leu | |
| ENST00000697340.1:c.*540C>T | ENSP00000513262.1:n.*540C>T | |
| ENST00000697341.1:n.1793C>T | ||
| ENST00000313735.11:c.1823C>T MANE Select | ENSP00000327251.6:p.Ser608Leu | |
| ENST00000646938.1:c.1820C>T | ENSP00000494870.1:p.Ser607Leu | |
| ENST00000313735.10:c.1823C>T | ENSP00000327251.6:p.Ser608Leu | |
| ENST00000621962.1:c.1706C>T | ENSP00000482291.1:p.Ser569Leu | |
| NM_000625.4:c.1823C>T MANE Select | NP_000616.3:p.Ser608Leu | |
| XM_011524859.1:c.1823C>T | XP_011523161.1:p.Ser608Leu | |
| XM_011524860.1:c.1820C>T | XP_011523162.1:p.Ser607Leu | |
| XM_011524861.1:c.1823C>T | XP_011523163.1:p.Ser608Leu | |
| XM_011524862.1:c.1157C>T | XP_011523164.1:p.Ser386Leu |