Linked Data
ClinVar Variation Id:
281287
dbSNP Id:
rs782531580
ExAC:
8:144993064 T / C
gnomAD v2:
8-144993064-T-C
gnomAD v3:
8-143918896-T-C
gnomAD v4:
8-143918896-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143918896T>C , CM000670.2:g.143918896T>C | GRCh38 |
| NC_000008.10:g.144993064T>C , CM000670.1:g.144993064T>C | GRCh37 |
| NC_000008.9:g.145065052T>C | NCBI36 |
| NG_012492.1:g.62850A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.11057A>G | ENSP00000437303.2:p.Tyr3686Cys | |
| ENST00000685198.1:c.10976A>G | ENSP00000510528.1:p.Tyr3659Cys | |
| ENST00000687971.1:c.10643A>G | ENSP00000510788.1:p.Tyr3548Cys | |
| ENST00000693060.1:c.10856A>G | ENSP00000510329.1:p.Tyr3619Cys | |
| ENST00000345136.8:c.10925A>G MANE Select | ENSP00000344848.3:p.Tyr3642Cys | |
| ENST00000527303.2:c.7625A>G | ENSP00000433982.2:p.Tyr2542Cys | |
| ENST00000322810.8:c.11336A>G | ENSP00000323856.4:p.Tyr3779Cys | |
| ENST00000345136.7:c.10925A>G | ENSP00000344848.3:p.Tyr3642Cys | |
| ENST00000354589.7:c.10925A>G | ENSP00000346602.3:p.Tyr3642Cys | |
| ENST00000354958.6:c.10859A>G | ENSP00000347044.2:p.Tyr3620Cys | |
| ENST00000356346.7:c.10883A>G MANE Plus Clinical | ENSP00000348702.3:p.Tyr3628Cys | |
| ENST00000357649.6:c.10937A>G | ENSP00000350277.2:p.Tyr3646Cys | |
| ENST00000398774.6:c.10829A>G | ENSP00000381756.2:p.Tyr3610Cys | |
| ENST00000436759.6:c.11006A>G | ENSP00000388180.2:p.Tyr3669Cys | |
| ENST00000527096.5:c.10994A>G | ENSP00000434583.1:p.Tyr3665Cys | |
| NM_000445.4:c.11006A>G | NP_000436.2:p.Tyr3669Cys | |
| NM_201378.3:c.10883A>G | NP_958780.1:p.Tyr3628Cys | |
| NM_201379.2:c.10859A>G | NP_958781.1:p.Tyr3620Cys | |
| NM_201380.3:c.11336A>G | NP_958782.1:p.Tyr3779Cys | |
| NM_201381.2:c.10829A>G | NP_958783.1:p.Tyr3610Cys | |
| NM_201382.3:c.10925A>G | NP_958784.1:p.Tyr3642Cys | |
| NM_201383.2:c.10937A>G | NP_958785.1:p.Tyr3646Cys | |
| NM_201384.2:c.10925A>G | NP_958786.1:p.Tyr3642Cys | |
| XM_005250976.2:c.11351A>G | XP_005251033.1:p.Tyr3784Cys | |
| XM_005250978.2:c.10952A>G | XP_005251035.1:p.Tyr3651Cys | |
| XM_005250979.3:c.10940A>G | XP_005251036.1:p.Tyr3647Cys | |
| XM_005250980.3:c.10940A>G | XP_005251037.1:p.Tyr3647Cys | |
| XM_005250981.2:c.10898A>G | XP_005251038.1:p.Tyr3633Cys | |
| XM_005250982.2:c.10874A>G | XP_005251039.1:p.Tyr3625Cys | |
| XM_005250983.2:c.10856A>G | XP_005251040.1:p.Tyr3619Cys | |
| XM_005250984.3:c.10844A>G | XP_005251041.1:p.Tyr3615Cys | |
| XM_006716588.2:c.11021A>G | XP_006716651.1:p.Tyr3674Cys | |
| XM_006716589.2:c.10871A>G | XP_006716652.1:p.Tyr3624Cys | |
| XM_006716590.2:c.10871A>G | XP_006716653.1:p.Tyr3624Cys | |
| XM_011517130.1:c.10940A>G | XP_011515432.1:p.Tyr3647Cys | |
| XM_011517131.1:c.10856A>G | XP_011515433.1:p.Tyr3619Cys | |
| XM_011517132.1:c.7571A>G | XP_011515434.1:p.Tyr2524Cys | |
| XM_005250976.4:c.11351A>G | XP_005251033.1:p.Tyr3784Cys | |
| XM_005250978.3:c.10952A>G | XP_005251035.1:p.Tyr3651Cys | |
| XM_005250979.4:c.10940A>G | XP_005251036.1:p.Tyr3647Cys | |
| XM_005250980.4:c.10940A>G | XP_005251037.1:p.Tyr3647Cys | |
| XM_005250981.3:c.10898A>G | XP_005251038.1:p.Tyr3633Cys | |
| XM_005250982.4:c.10874A>G | XP_005251039.1:p.Tyr3625Cys | |
| XM_005250984.5:c.10844A>G | XP_005251041.1:p.Tyr3615Cys | |
| XM_006716588.3:c.11021A>G | XP_006716651.1:p.Tyr3674Cys | |
| XM_006716590.3:c.10871A>G | XP_006716653.1:p.Tyr3624Cys | |
| XM_011517130.2:c.10940A>G | XP_011515432.1:p.Tyr3647Cys | |
| XM_011517131.2:c.10856A>G | XP_011515433.1:p.Tyr3619Cys | |
| XM_011517132.2:c.7571A>G | XP_011515434.1:p.Tyr2524Cys | |
| NM_000445.5:c.11006A>G | NP_000436.2:p.Tyr3669Cys | |
| NM_201378.4:c.10883A>G MANE Plus Clinical | NP_958780.1:p.Tyr3628Cys | |
| NM_201379.3:c.10859A>G | NP_958781.1:p.Tyr3620Cys | |
| NM_201380.4:c.11336A>G | NP_958782.1:p.Tyr3779Cys | |
| NM_201381.3:c.10829A>G | NP_958783.1:p.Tyr3610Cys | |
| NM_201382.4:c.10925A>G | NP_958784.1:p.Tyr3642Cys | |
| NM_201383.3:c.10937A>G | NP_958785.1:p.Tyr3646Cys | |
| NM_201384.3:c.10925A>G MANE Select | NP_958786.1:p.Tyr3642Cys |