Linked Data
ClinVar Variation Id:
540057
ClinVar RCV Id:
RCV000649983
dbSNP Id:
rs775500020
ExAC:
14:105176441 G / A
gnomAD v2:
14-105176441-G-A
gnomAD v3:
14-104710104-G-A
gnomAD v4:
14-104710104-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104710104G>A , CM000676.2:g.104710104G>A | GRCh38 |
| NC_000014.8:g.105176441G>A , CM000676.1:g.105176441G>A | GRCh37 |
| NC_000014.7:g.104247486G>A | NCBI36 |
| NG_027684.1:g.25499G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.2155G>A MANE Select | ENSP00000376410.4:p.Glu719Lys | |
| ENST00000617571.5:c.2155G>A | ENSP00000483829.2:p.Glu719Lys | |
| ENST00000674520.1:c.2155G>A | ENSP00000502593.1:p.Glu719Lys | |
| ENST00000674631.1:c.193G>A | ENSP00000502830.1:p.Glu65Lys | |
| ENST00000674662.1:c.2155G>A | ENSP00000501895.1:p.Glu719Lys | |
| ENST00000674757.1:c.2155G>A | ENSP00000502202.1:p.Glu719Lys | |
| ENST00000674822.1:c.2039G>A | ENSP00000501552.1:n.2039G>A | |
| ENST00000674846.1:c.2155G>A | ENSP00000502431.1:p.Glu719Lys | |
| ENST00000674857.1:c.2144G>A | ENSP00000501687.1:n.2144G>A | |
| ENST00000674960.1:c.2013G>A | ENSP00000501841.1:n.2013G>A | |
| ENST00000674991.1:c.1405G>A | ENSP00000502004.1:p.Glu469Lys | |
| ENST00000674994.1:c.2121G>A | ENSP00000502442.1:n.2121G>A | |
| ENST00000675207.1:c.2251G>A | ENSP00000502644.1:p.Glu751Lys | |
| ENST00000675329.1:c.2131G>A | ENSP00000502287.1:p.Glu711Lys | |
| ENST00000675481.1:c.2155G>A | ENSP00000502723.1:p.Glu719Lys | |
| ENST00000675583.1:c.2155G>A | ENSP00000501740.1:p.Glu719Lys | |
| ENST00000675638.1:c.2155G>A | ENSP00000501647.1:p.Glu719Lys | |
| ENST00000675724.1:c.2093G>A | ENSP00000502576.1:n.2093G>A | |
| ENST00000675771.1:c.1418G>A | ENSP00000502104.1:n.1418G>A | |
| ENST00000675797.1:c.1560G>A | ENSP00000502023.1:n.1560G>A | |
| ENST00000675809.1:c.2155G>A | ENSP00000502587.1:p.Glu719Lys | |
| ENST00000675930.1:c.2155G>A | ENSP00000502456.1:p.Glu719Lys | |
| ENST00000675980.1:c.2155G>A | ENSP00000502520.1:p.Glu719Lys | |
| ENST00000676016.1:c.2138+399G>A | ENSP00000502412.1:n.2138+399G>A | |
| ENST00000676366.1:c.2155G>A | ENSP00000501605.1:p.Glu719Lys | |
| ENST00000252527.8:c.559G>A | ENSP00000252527.8:p.Glu187Lys | |
| ENST00000330634.11:c.2155G>A | ENSP00000376406.3:p.Glu719Lys | |
| ENST00000392634.8:c.2155G>A | ENSP00000376410.4:p.Glu719Lys | |
| ENST00000474229.1:n.648G>A | ||
| ENST00000617571.4:c.-1969G>A | ENSP00000483829.1:n.-1969G>A | |
| NM_001031714.3:c.2155G>A | NP_001026884.3:p.Glu719Lys | |
| NM_022489.3:c.2155G>A | NP_071934.3:p.Glu719Lys | |
| XM_005268004.3:c.2251G>A | XP_005268061.1:p.Glu751Lys | |
| XM_005268005.3:c.2251G>A | XP_005268062.1:p.Glu751Lys | |
| XR_943507.1:n.2380G>A | ||
| XM_005268004.4:c.2251G>A | XP_005268061.1:p.Glu751Lys | |
| XM_005268005.4:c.2251G>A | XP_005268062.1:p.Glu751Lys | |
| XM_017021595.1:c.2251G>A | XP_016877084.1:p.Glu751Lys | |
| XR_001750518.1:n.2356G>A | ||
| NM_001031714.4:c.2155G>A | NP_001026884.3:p.Glu719Lys | |
| NM_022489.4:c.2155G>A MANE Select | NP_071934.3:p.Glu719Lys |