Linked Data
ClinVar Variation Id:
283877
dbSNP Id:
rs564245730
ExAC:
8:144998001 C / G
gnomAD v2:
8-144998001-C-G
gnomAD v3:
8-143923833-C-G
gnomAD v4:
8-143923833-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143923833C>G , CM000670.2:g.143923833C>G | GRCh38 |
| NC_000008.10:g.144998001C>G , CM000670.1:g.144998001C>G | GRCh37 |
| NC_000008.9:g.145069989C>G | NCBI36 |
| NG_012492.1:g.57913G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.6228G>C | ENSP00000437303.2:p.Ser2076= | |
| ENST00000685198.1:c.6147G>C | ENSP00000510528.1:p.Ser2049= | |
| ENST00000687971.1:c.5814G>C | ENSP00000510788.1:p.Ser1938= | |
| ENST00000693060.1:c.6027G>C | ENSP00000510329.1:p.Ser2009= | |
| ENST00000345136.8:c.6096G>C MANE Select | ENSP00000344848.3:p.Ser2032= | |
| ENST00000527303.2:c.4126-1438G>C | ENSP00000433982.2:n.4126-1438G>C | |
| ENST00000322810.8:c.6507G>C | ENSP00000323856.4:p.Ser2169= | |
| ENST00000345136.7:c.6096G>C | ENSP00000344848.3:p.Ser2032= | |
| ENST00000354589.7:c.6096G>C | ENSP00000346602.3:p.Ser2032= | |
| ENST00000354958.6:c.6030G>C | ENSP00000347044.2:p.Ser2010= | |
| ENST00000356346.7:c.6054G>C MANE Plus Clinical | ENSP00000348702.3:p.Ser2018= | |
| ENST00000357649.6:c.6108G>C | ENSP00000350277.2:p.Ser2036= | |
| ENST00000398774.6:c.6000G>C | ENSP00000381756.2:p.Ser2000= | |
| ENST00000436759.6:c.6177G>C | ENSP00000388180.2:p.Ser2059= | |
| ENST00000527096.5:c.6165G>C | ENSP00000434583.1:p.Ser2055= | |
| ENST00000527303.1:c.135-1438G>C | ||
| NM_000445.4:c.6177G>C | NP_000436.2:p.Ser2059= | |
| NM_201378.3:c.6054G>C | NP_958780.1:p.Ser2018= | |
| NM_201379.2:c.6030G>C | NP_958781.1:p.Ser2010= | |
| NM_201380.3:c.6507G>C | NP_958782.1:p.Ser2169= | |
| NM_201381.2:c.6000G>C | NP_958783.1:p.Ser2000= | |
| NM_201382.3:c.6096G>C | NP_958784.1:p.Ser2032= | |
| NM_201383.2:c.6108G>C | NP_958785.1:p.Ser2036= | |
| NM_201384.2:c.6096G>C | NP_958786.1:p.Ser2032= | |
| XM_005250976.2:c.6522G>C | XP_005251033.1:p.Ser2174= | |
| XM_005250978.2:c.6123G>C | XP_005251035.1:p.Ser2041= | |
| XM_005250979.3:c.6111G>C | XP_005251036.1:p.Ser2037= | |
| XM_005250980.3:c.6111G>C | XP_005251037.1:p.Ser2037= | |
| XM_005250981.2:c.6069G>C | XP_005251038.1:p.Ser2023= | |
| XM_005250982.2:c.6045G>C | XP_005251039.1:p.Ser2015= | |
| XM_005250983.2:c.6027G>C | XP_005251040.1:p.Ser2009= | |
| XM_005250984.3:c.6015G>C | XP_005251041.1:p.Ser2005= | |
| XM_006716588.2:c.6192G>C | XP_006716651.1:p.Ser2064= | |
| XM_006716589.2:c.6042G>C | XP_006716652.1:p.Ser2014= | |
| XM_006716590.2:c.6042G>C | XP_006716653.1:p.Ser2014= | |
| XM_011517130.1:c.6111G>C | XP_011515432.1:p.Ser2037= | |
| XM_011517131.1:c.6027G>C | XP_011515433.1:p.Ser2009= | |
| XM_011517132.1:c.4072-1438G>C | XP_011515434.1:n.4072-1438G>C | |
| XM_005250976.4:c.6522G>C | XP_005251033.1:p.Ser2174= | |
| XM_005250978.3:c.6123G>C | XP_005251035.1:p.Ser2041= | |
| XM_005250979.4:c.6111G>C | XP_005251036.1:p.Ser2037= | |
| XM_005250980.4:c.6111G>C | XP_005251037.1:p.Ser2037= | |
| XM_005250981.3:c.6069G>C | XP_005251038.1:p.Ser2023= | |
| XM_005250982.4:c.6045G>C | XP_005251039.1:p.Ser2015= | |
| XM_005250984.5:c.6015G>C | XP_005251041.1:p.Ser2005= | |
| XM_006716588.3:c.6192G>C | XP_006716651.1:p.Ser2064= | |
| XM_006716590.3:c.6042G>C | XP_006716653.1:p.Ser2014= | |
| XM_011517130.2:c.6111G>C | XP_011515432.1:p.Ser2037= | |
| XM_011517131.2:c.6027G>C | XP_011515433.1:p.Ser2009= | |
| XM_011517132.2:c.4072-1438G>C | XP_011515434.1:n.4072-1438G>C | |
| NM_000445.5:c.6177G>C | NP_000436.2:p.Ser2059= | |
| NM_201378.4:c.6054G>C MANE Plus Clinical | NP_958780.1:p.Ser2018= | |
| NM_201379.3:c.6030G>C | NP_958781.1:p.Ser2010= | |
| NM_201380.4:c.6507G>C | NP_958782.1:p.Ser2169= | |
| NM_201381.3:c.6000G>C | NP_958783.1:p.Ser2000= | |
| NM_201382.4:c.6096G>C | NP_958784.1:p.Ser2032= | |
| NM_201383.3:c.6108G>C | NP_958785.1:p.Ser2036= | |
| NM_201384.3:c.6096G>C MANE Select | NP_958786.1:p.Ser2032= |