Linked Data
ClinVar Variation Id:
98237
dbSNP Id:
rs1800557
ExAC:
21:27264107 G / A
gnomAD v2:
21-27264107-G-A
gnomAD v3:
21-25891795-G-A
gnomAD v4:
21-25891795-G-A
COSMIC:
COSM2841330
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25891795G>A , CM000683.2:g.25891795G>A | GRCh38 |
| NC_000021.8:g.27264107G>A , CM000683.1:g.27264107G>A | GRCh37 |
| NC_000021.7:g.26185978G>A | NCBI36 |
| NG_007376.1:g.284026C>T | |
| NG_007376.2:g.284334C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707132.1:n.2105C>T | ||
| ENST00000707133.1:n.535C>T | ||
| ENST00000707134.1:n.804C>T | ||
| ENST00000346798.8:c.2138C>T MANE Select | ENSP00000284981.4:p.Ala713Val | |
| ENST00000346798.7:c.2138C>T | ENSP00000284981.4:p.Ala713Val | |
| ENST00000348990.9:c.1913C>T | ENSP00000345463.5:p.Ala638Val | |
| ENST00000354192.7:c.1745C>T | ENSP00000346129.3:p.Ala582Val | |
| ENST00000357903.7:c.2081C>T | ENSP00000350578.3:p.Ala694Val | |
| ENST00000358918.7:c.2084C>T | ENSP00000351796.3:p.Ala695Val | |
| ENST00000359726.7:c.1808C>T | ENSP00000352760.4:p.Ala603Val | |
| ENST00000439274.6:c.1970C>T | ENSP00000398879.2:p.Ala657Val | |
| ENST00000440126.7:c.2066C>T | ENSP00000387483.2:p.Ala689Val | |
| ENST00000464867.1:n.485C>T | ||
| NM_000484.3:c.2138C>T | NP_000475.1:p.Ala713Val | |
| NM_001136016.3:c.2066C>T | NP_001129488.1:p.Ala689Val | |
| NM_001136129.2:c.1745C>T | NP_001129601.1:p.Ala582Val | |
| NM_001136130.2:c.1970C>T | NP_001129602.1:p.Ala657Val | |
| NM_001136131.2:c.1808C>T | NP_001129603.1:p.Ala603Val | |
| NM_001204301.1:c.2084C>T | NP_001191230.1:p.Ala695Val | |
| NM_001204302.1:c.2027C>T | NP_001191231.1:p.Ala676Val | |
| NM_001204303.1:c.1859C>T | NP_001191232.1:p.Ala620Val | |
| NM_201413.2:c.2081C>T | NP_958816.1:p.Ala694Val | |
| NM_201414.2:c.1913C>T | NP_958817.1:p.Ala638Val | |
| NM_000484.4:c.2138C>T MANE Select | NP_000475.1:p.Ala713Val | |
| NM_001136129.3:c.1745C>T | NP_001129601.1:p.Ala582Val | |
| NM_001136130.3:c.1970C>T | NP_001129602.1:p.Ala657Val | |
| NM_001204301.2:c.2084C>T | NP_001191230.1:p.Ala695Val | |
| NM_001204302.2:c.2027C>T | NP_001191231.1:p.Ala676Val | |
| NM_001204303.2:c.1859C>T | NP_001191232.1:p.Ala620Val | |
| NM_201413.3:c.2081C>T | NP_958816.1:p.Ala694Val | |
| NM_201414.3:c.1913C>T | NP_958817.1:p.Ala638Val | |
| NM_001136131.3:c.1808C>T | NP_001129603.1:p.Ala603Val | |
| NM_001385253.1:c.1970C>T | NP_001372182.1:p.Ala657Val |