Linked Data
ClinVar Variation Id:
283715
dbSNP Id:
rs782096761
ExAC:
8:145011216 A / G
gnomAD v2:
8-145011216-A-G
gnomAD v3:
8-143937048-A-G
gnomAD v4:
8-143937048-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143937048A>G , CM000670.2:g.143937048A>G | GRCh38 |
| NC_000008.10:g.145011216A>G , CM000670.1:g.145011216A>G | GRCh37 |
| NC_000008.9:g.145083204A>G | NCBI36 |
| NG_012492.1:g.44698T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.498T>C | ENSP00000437303.2:p.Asn166= | |
| ENST00000685198.1:c.417T>C | ENSP00000510528.1:p.Asn139= | |
| ENST00000687971.1:c.84T>C | ENSP00000510788.1:p.Asn28= | |
| ENST00000693060.1:c.297T>C | ENSP00000510329.1:p.Asn99= | |
| ENST00000345136.8:c.366T>C MANE Select | ENSP00000344848.3:p.Asn122= | |
| ENST00000527303.2:c.447T>C | ENSP00000433982.2:p.Asn149= | |
| ENST00000322810.8:c.777T>C | ENSP00000323856.4:p.Asn259= | |
| ENST00000345136.7:c.366T>C | ENSP00000344848.3:p.Asn122= | |
| ENST00000354589.7:c.366T>C | ENSP00000346602.3:p.Asn122= | |
| ENST00000354958.6:c.300T>C | ENSP00000347044.2:p.Asn100= | |
| ENST00000356346.7:c.324T>C MANE Plus Clinical | ENSP00000348702.3:p.Asn108= | |
| ENST00000357649.6:c.378T>C | ENSP00000350277.2:p.Asn126= | |
| ENST00000398774.6:c.270T>C | ENSP00000381756.2:p.Asn90= | |
| ENST00000436759.6:c.447T>C | ENSP00000388180.2:p.Asn149= | |
| ENST00000526416.5:c.297T>C | ENSP00000433557.1:p.Asn99= | |
| ENST00000527096.5:c.447T>C | ENSP00000434583.1:p.Asn149= | |
| ENST00000527816.5:c.84T>C | ENSP00000434490.1:p.Asn28= | |
| ENST00000528025.5:c.498T>C | ENSP00000437303.1:p.Asn166= | |
| ENST00000528131.1:c.417T>C | ENSP00000436702.1:p.Asn139= | |
| NM_000445.4:c.447T>C | NP_000436.2:p.Asn149= | |
| NM_201378.3:c.324T>C | NP_958780.1:p.Asn108= | |
| NM_201379.2:c.300T>C | NP_958781.1:p.Asn100= | |
| NM_201380.3:c.777T>C | NP_958782.1:p.Asn259= | |
| NM_201381.2:c.270T>C | NP_958783.1:p.Asn90= | |
| NM_201382.3:c.366T>C | NP_958784.1:p.Asn122= | |
| NM_201383.2:c.378T>C | NP_958785.1:p.Asn126= | |
| NM_201384.2:c.366T>C | NP_958786.1:p.Asn122= | |
| XM_005250976.2:c.792T>C | XP_005251033.1:p.Asn264= | |
| XM_005250978.2:c.393T>C | XP_005251035.1:p.Asn131= | |
| XM_005250979.3:c.381T>C | XP_005251036.1:p.Asn127= | |
| XM_005250980.3:c.381T>C | XP_005251037.1:p.Asn127= | |
| XM_005250981.2:c.339T>C | XP_005251038.1:p.Asn113= | |
| XM_005250982.2:c.315T>C | XP_005251039.1:p.Asn105= | |
| XM_005250983.2:c.297T>C | XP_005251040.1:p.Asn99= | |
| XM_005250984.3:c.285T>C | XP_005251041.1:p.Asn95= | |
| XM_006716588.2:c.462T>C | XP_006716651.1:p.Asn154= | |
| XM_006716589.2:c.312T>C | XP_006716652.1:p.Asn104= | |
| XM_006716590.2:c.312T>C | XP_006716653.1:p.Asn104= | |
| XM_011517130.1:c.393T>C | XP_011515432.1:p.Asn131= | |
| XM_011517131.1:c.297T>C | XP_011515433.1:p.Asn99= | |
| XM_011517132.1:c.393T>C | XP_011515434.1:p.Asn131= | |
| XM_005250976.4:c.792T>C | XP_005251033.1:p.Asn264= | |
| XM_005250978.3:c.393T>C | XP_005251035.1:p.Asn131= | |
| XM_005250979.4:c.381T>C | XP_005251036.1:p.Asn127= | |
| XM_005250980.4:c.381T>C | XP_005251037.1:p.Asn127= | |
| XM_005250981.3:c.339T>C | XP_005251038.1:p.Asn113= | |
| XM_005250982.4:c.315T>C | XP_005251039.1:p.Asn105= | |
| XM_005250984.5:c.285T>C | XP_005251041.1:p.Asn95= | |
| XM_006716588.3:c.462T>C | XP_006716651.1:p.Asn154= | |
| XM_006716590.3:c.312T>C | XP_006716653.1:p.Asn104= | |
| XM_011517130.2:c.393T>C | XP_011515432.1:p.Asn131= | |
| XM_011517131.2:c.297T>C | XP_011515433.1:p.Asn99= | |
| XM_011517132.2:c.393T>C | XP_011515434.1:p.Asn131= | |
| NM_000445.5:c.447T>C | NP_000436.2:p.Asn149= | |
| NM_201378.4:c.324T>C MANE Plus Clinical | NP_958780.1:p.Asn108= | |
| NM_201379.3:c.300T>C | NP_958781.1:p.Asn100= | |
| NM_201380.4:c.777T>C | NP_958782.1:p.Asn259= | |
| NM_201381.3:c.270T>C | NP_958783.1:p.Asn90= | |
| NM_201382.4:c.366T>C | NP_958784.1:p.Asn122= | |
| NM_201383.3:c.378T>C | NP_958785.1:p.Asn126= | |
| NM_201384.3:c.366T>C MANE Select | NP_958786.1:p.Asn122= |