Linked Data
ClinVar Variation Id:
2149982
ClinVar RCV Id:
RCV003065758
dbSNP Id:
rs1483080564
gnomAD v2:
10-73544831-G-A
gnomAD v3:
10-71785074-G-A
gnomAD v4:
10-71785074-G-A
COSMIC:
COSM3867761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71785074G>A , CM000672.2:g.71785074G>A | GRCh38 |
| NC_000010.10:g.73544831G>A , CM000672.1:g.73544831G>A | GRCh37 |
| NC_000010.9:g.73214837G>A | NCBI36 |
| NG_008835.1:g.393128G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5686G>A MANE Select | ENSP00000224721.9:p.Glu1896Lys | |
| ENST00000224721.10:c.5701G>A | ENSP00000224721.8:p.Glu1901Lys | |
| ENST00000622827.4:c.5686G>A | ENSP00000483211.1:p.Glu1896Lys | |
| NM_022124.5:c.5686G>A | NP_071407.4:p.Glu1896Lys | |
| XM_006717940.2:c.5881G>A | XP_006718003.1:p.Glu1961Lys | |
| XM_006717942.2:c.5815G>A | XP_006718005.1:p.Glu1939Lys | |
| XM_011540039.1:c.5878G>A | XP_011538341.1:p.Glu1960Lys | |
| XM_011540040.1:c.5875G>A | XP_011538342.1:p.Glu1959Lys | |
| XM_011540041.1:c.5821G>A | XP_011538343.1:p.Glu1941Lys | |
| XM_011540042.1:c.5881G>A | XP_011538344.1:p.Glu1961Lys | |
| XM_011540043.1:c.5881G>A | XP_011538345.1:p.Glu1961Lys | |
| XM_011540044.1:c.5746G>A | XP_011538346.1:p.Glu1916Lys | |
| XM_011540045.1:c.5881G>A | XP_011538347.1:p.Glu1961Lys | |
| XM_011540046.1:c.5341G>A | XP_011538348.1:p.Glu1781Lys | |
| XM_011540047.1:c.4699G>A | XP_011538349.1:p.Glu1567Lys | |
| XM_011540048.1:c.5881G>A | XP_011538350.1:p.Glu1961Lys | |
| XM_011540049.1:c.5881G>A | XP_011538351.1:p.Glu1961Lys | |
| XM_011540050.1:c.5881G>A | XP_011538352.1:p.Glu1961Lys | |
| XM_011540051.1:c.5881G>A | XP_011538353.1:p.Glu1961Lys | |
| XM_011540052.1:c.2209G>A | XP_011538354.1:p.Glu737Lys | |
| XM_011540053.1:c.5881G>A | XP_011538355.1:p.Glu1961Lys | |
| XR_945796.1:n.6124G>A | ||
| NM_022124.6:c.5686G>A MANE Select | NP_071407.4:p.Glu1896Lys |