Linked Data
ClinVar Variation Id:
1175563
ClinVar RCV Id:
RCV001530746
dbSNP Id:
rs16985478
gnomAD v3:
19-54636798-G-A
gnomAD v4:
19-54636798-G-A
MyVariant Identifiers:
chr19:g.54636798G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54636798G>A , CM000681.2:g.54636798G>A | GRCh38 |
| NC_000019.8:g.59840061G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324602.12:c.1879G>A MANE Select | ENSP00000315997.7:p.Glu627Lys | |
| ENST00000324602.11:c.1879G>A | ENSP00000315997.7:p.Glu627Lys | |
| ENST00000396315.5:c.1879G>A | ENSP00000379608.1:p.Glu627Lys | |
| ENST00000396317.5:c.1825G>A | ENSP00000379610.1:p.Glu609Lys | |
| ENST00000396327.7:c.1876G>A | ENSP00000379618.3:p.Glu626Lys | |
| ENST00000396331.5:c.1873G>A | ENSP00000379622.1:p.Glu625Lys | |
| ENST00000396332.8:c.1876G>A | ENSP00000379623.4:p.Glu626Lys | |
| ENST00000421584.5:c.1797G>A | ENSP00000410165.1:n.1797G>A | |
| ENST00000427581.6:c.2026G>A | ENSP00000395004.2:p.Glu676Lys | |
| ENST00000462628.5:n.1657G>A | ||
| NM_001081637.2:c.1879G>A | NP_001075106.2:p.Glu627Lys | |
| NM_001081638.3:c.1876G>A | NP_001075107.2:p.Glu626Lys | |
| NM_001081639.3:c.1876G>A | NP_001075108.2:p.Glu626Lys | |
| NM_001278398.2:c.1825G>A | NP_001265327.2:p.Glu609Lys | |
| NM_006669.6:c.1873G>A | NP_006660.4:p.Glu625Lys | |
| NR_103518.2:n.1962G>A | ||
| XM_011526331.1:c.1909G>A | XP_011524633.1:p.Glu637Lys | |
| XM_011526332.1:c.1906G>A | XP_011524634.1:p.Glu636Lys | |
| XM_011526333.1:c.1906G>A | XP_011524635.1:p.Glu636Lys | |
| XM_011526334.1:c.1930G>A | XP_011524636.1:p.Glu644Lys | |
| XM_011526335.1:c.1750G>A | XP_011524637.1:p.Glu584Lys | |
| XM_011526336.1:c.1717G>A | XP_011524638.1:p.Glu573Lys | |
| XM_011526339.1:c.1873G>A | XP_011524641.1:p.Glu625Lys | |
| XM_011526331.2:c.1909G>A | XP_011524633.1:p.Glu637Lys | |
| XM_011526332.3:c.1906G>A | XP_011524634.1:p.Glu636Lys | |
| XM_011526335.2:c.1750G>A | XP_011524637.1:p.Glu584Lys | |
| XM_011526336.2:c.1717G>A | XP_011524638.1:p.Glu573Lys | |
| XM_017026182.2:c.1906G>A | XP_016881671.1:p.Glu636Lys | |
| XM_017026183.2:c.1903G>A | XP_016881672.1:p.Glu635Lys | |
| XM_017026184.2:c.1903G>A | XP_016881673.1:p.Glu635Lys | |
| XM_017026185.1:c.1873G>A | XP_016881674.1:p.Glu625Lys | |
| XM_017026186.1:c.1930G>A | XP_016881675.1:p.Glu644Lys | |
| XM_017026187.1:c.1930G>A | XP_016881676.1:p.Glu644Lys | |
| XM_017026188.1:c.1927G>A | XP_016881677.1:p.Glu643Lys | |
| XM_017026189.1:c.1927G>A | XP_016881678.1:p.Glu643Lys | |
| XM_017026190.1:c.1924G>A | XP_016881679.1:p.Glu642Lys | |
| XM_017026191.1:c.1720G>A | XP_016881680.1:p.Glu574Lys | |
| XR_001753590.2:n.2126G>A | ||
| XR_001753591.1:n.2131G>A | ||
| XR_002958244.1:n.2123G>A | ||
| NM_001081637.3:c.1879G>A MANE Select | NP_001075106.2:p.Glu627Lys | |
| NM_001081638.4:c.1876G>A | NP_001075107.2:p.Glu626Lys | |
| NM_001081639.4:c.1876G>A | NP_001075108.2:p.Glu626Lys | |
| NM_001388355.1:c.1876G>A | NP_001375284.1:p.Glu626Lys | |
| NM_001388356.1:c.1876G>A | NP_001375285.1:p.Glu626Lys | |
| NM_001388357.1:c.1876G>A | NP_001375286.1:p.Glu626Lys | |
| NM_001388358.1:c.1879G>A | NP_001375287.1:p.Glu627Lys | |
| NM_006669.7:c.1873G>A | NP_006660.4:p.Glu625Lys |