Linked Data
ClinVar Variation Id:
3041536
ClinVar RCV Id:
RCV003931903
dbSNP Id:
rs200686536
ExAC:
17:3427582 G / A
gnomAD v2:
17-3427582-G-A
gnomAD v3:
17-3524288-G-A
gnomAD v4:
17-3524288-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3524288G>A , CM000679.2:g.3524288G>A | GRCh38 |
| NC_000017.10:g.3427582G>A , CM000679.1:g.3427582G>A | GRCh37 |
| NC_000017.9:g.3374332G>A | NCBI36 |
| NG_032144.2:g.38708C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576742.6:c.1653C>T MANE Select | ENSP00000461518.2:p.Leu551= | |
| ENST00000301365.8:c.1653C>T | ENSP00000301365.4:p.Leu551= | |
| ENST00000381913.8:c.915C>T | ||
| ENST00000571139.5:c.*1645C>T | ENSP00000458187.1:n.*1645C>T | |
| ENST00000572519.1:c.1653C>T | ENSP00000460215.1:p.Leu551= | |
| ENST00000573539.5:c.*1663C>T | ENSP00000458239.1:n.*1663C>T | |
| ENST00000576742.5:c.1653C>T | ENSP00000461518.1:p.Leu551= | |
| ENST00000577016.5:c.328+2566C>T | ||
| ENST00000616411.4:c.1605C>T | ENSP00000483947.1:p.Leu535= | |
| NM_001258205.1:c.1653C>T | NP_001245134.1:p.Leu551= | |
| NM_145068.3:c.1653C>T | NP_659505.1:p.Leu551= | |
| XM_011523693.1:c.1577+2566C>T | XP_011521995.1:n.1577+2566C>T | |
| XM_011523694.1:c.948C>T | XP_011521996.1:p.Leu316= | |
| XM_011523695.1:c.606C>T | XP_011521997.1:p.Leu202= | |
| XR_934004.1:n.1727C>T | ||
| NM_001258205.2:c.1653C>T | NP_001245134.1:p.Leu551= | |
| NM_145068.4:c.1653C>T MANE Select | NP_659505.1:p.Leu551= |