Linked Data
ClinVar Variation Id:
471622
dbSNP Id:
rs200540800
ExAC:
8:144998052 T / A
gnomAD v2:
8-144998052-T-A
gnomAD v3:
8-143923884-T-A
gnomAD v4:
8-143923884-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143923884T>A , CM000670.2:g.143923884T>A | GRCh38 |
| NC_000008.10:g.144998052T>A , CM000670.1:g.144998052T>A | GRCh37 |
| NC_000008.9:g.145070040T>A | NCBI36 |
| NG_012492.1:g.57862A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.6177A>T | ENSP00000437303.2:p.Lys2059Asn | |
| ENST00000685198.1:c.6096A>T | ENSP00000510528.1:p.Lys2032Asn | |
| ENST00000687971.1:c.5763A>T | ENSP00000510788.1:p.Lys1921Asn | |
| ENST00000693060.1:c.5976A>T | ENSP00000510329.1:p.Lys1992Asn | |
| ENST00000345136.8:c.6045A>T MANE Select | ENSP00000344848.3:p.Lys2015Asn | |
| ENST00000527303.2:c.4126-1489A>T | ENSP00000433982.2:n.4126-1489A>T | |
| ENST00000322810.8:c.6456A>T | ENSP00000323856.4:p.Lys2152Asn | |
| ENST00000345136.7:c.6045A>T | ENSP00000344848.3:p.Lys2015Asn | |
| ENST00000354589.7:c.6045A>T | ENSP00000346602.3:p.Lys2015Asn | |
| ENST00000354958.6:c.5979A>T | ENSP00000347044.2:p.Lys1993Asn | |
| ENST00000356346.7:c.6003A>T MANE Plus Clinical | ENSP00000348702.3:p.Lys2001Asn | |
| ENST00000357649.6:c.6057A>T | ENSP00000350277.2:p.Lys2019Asn | |
| ENST00000398774.6:c.5949A>T | ENSP00000381756.2:p.Lys1983Asn | |
| ENST00000436759.6:c.6126A>T | ENSP00000388180.2:p.Lys2042Asn | |
| ENST00000527096.5:c.6114A>T | ENSP00000434583.1:p.Lys2038Asn | |
| ENST00000527303.1:c.135-1489A>T | ||
| NM_000445.4:c.6126A>T | NP_000436.2:p.Lys2042Asn | |
| NM_201378.3:c.6003A>T | NP_958780.1:p.Lys2001Asn | |
| NM_201379.2:c.5979A>T | NP_958781.1:p.Lys1993Asn | |
| NM_201380.3:c.6456A>T | NP_958782.1:p.Lys2152Asn | |
| NM_201381.2:c.5949A>T | NP_958783.1:p.Lys1983Asn | |
| NM_201382.3:c.6045A>T | NP_958784.1:p.Lys2015Asn | |
| NM_201383.2:c.6057A>T | NP_958785.1:p.Lys2019Asn | |
| NM_201384.2:c.6045A>T | NP_958786.1:p.Lys2015Asn | |
| XM_005250976.2:c.6471A>T | XP_005251033.1:p.Lys2157Asn | |
| XM_005250978.2:c.6072A>T | XP_005251035.1:p.Lys2024Asn | |
| XM_005250979.3:c.6060A>T | XP_005251036.1:p.Lys2020Asn | |
| XM_005250980.3:c.6060A>T | XP_005251037.1:p.Lys2020Asn | |
| XM_005250981.2:c.6018A>T | XP_005251038.1:p.Lys2006Asn | |
| XM_005250982.2:c.5994A>T | XP_005251039.1:p.Lys1998Asn | |
| XM_005250983.2:c.5976A>T | XP_005251040.1:p.Lys1992Asn | |
| XM_005250984.3:c.5964A>T | XP_005251041.1:p.Lys1988Asn | |
| XM_006716588.2:c.6141A>T | XP_006716651.1:p.Lys2047Asn | |
| XM_006716589.2:c.5991A>T | XP_006716652.1:p.Lys1997Asn | |
| XM_006716590.2:c.5991A>T | XP_006716653.1:p.Lys1997Asn | |
| XM_011517130.1:c.6060A>T | XP_011515432.1:p.Lys2020Asn | |
| XM_011517131.1:c.5976A>T | XP_011515433.1:p.Lys1992Asn | |
| XM_011517132.1:c.4072-1489A>T | XP_011515434.1:n.4072-1489A>T | |
| XM_005250976.4:c.6471A>T | XP_005251033.1:p.Lys2157Asn | |
| XM_005250978.3:c.6072A>T | XP_005251035.1:p.Lys2024Asn | |
| XM_005250979.4:c.6060A>T | XP_005251036.1:p.Lys2020Asn | |
| XM_005250980.4:c.6060A>T | XP_005251037.1:p.Lys2020Asn | |
| XM_005250981.3:c.6018A>T | XP_005251038.1:p.Lys2006Asn | |
| XM_005250982.4:c.5994A>T | XP_005251039.1:p.Lys1998Asn | |
| XM_005250984.5:c.5964A>T | XP_005251041.1:p.Lys1988Asn | |
| XM_006716588.3:c.6141A>T | XP_006716651.1:p.Lys2047Asn | |
| XM_006716590.3:c.5991A>T | XP_006716653.1:p.Lys1997Asn | |
| XM_011517130.2:c.6060A>T | XP_011515432.1:p.Lys2020Asn | |
| XM_011517131.2:c.5976A>T | XP_011515433.1:p.Lys1992Asn | |
| XM_011517132.2:c.4072-1489A>T | XP_011515434.1:n.4072-1489A>T | |
| NM_000445.5:c.6126A>T | NP_000436.2:p.Lys2042Asn | |
| NM_201378.4:c.6003A>T MANE Plus Clinical | NP_958780.1:p.Lys2001Asn | |
| NM_201379.3:c.5979A>T | NP_958781.1:p.Lys1993Asn | |
| NM_201380.4:c.6456A>T | NP_958782.1:p.Lys2152Asn | |
| NM_201381.3:c.5949A>T | NP_958783.1:p.Lys1983Asn | |
| NM_201382.4:c.6045A>T | NP_958784.1:p.Lys2015Asn | |
| NM_201383.3:c.6057A>T | NP_958785.1:p.Lys2019Asn | |
| NM_201384.3:c.6045A>T MANE Select | NP_958786.1:p.Lys2015Asn |