Linked Data
ClinVar Variation Id:
93049
ClinVar RCV Id:
RCV000078864
RCV001516618
RCV001789070
RCV001789074
RCV001789071
RCV001789072
RCV001789073
dbSNP Id:
rs7002152
ExAC:
8:145000056 T / C
gnomAD v2:
8-145000056-T-C
gnomAD v3:
8-143925888-T-C
gnomAD v4:
8-143925888-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143925888T>C , CM000670.2:g.143925888T>C | GRCh38 |
| NC_000008.10:g.145000056T>C , CM000670.1:g.145000056T>C | GRCh37 |
| NC_000008.9:g.145072044T>C | NCBI36 |
| NG_012492.1:g.55858A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.4177-4A>G | ENSP00000437303.2:n.4177-4A>G | |
| ENST00000685198.1:c.4096-4A>G | ENSP00000510528.1:n.4096-4A>G | |
| ENST00000687971.1:c.3763-4A>G | ENSP00000510788.1:n.3763-4A>G | |
| ENST00000693060.1:c.3976-4A>G | ENSP00000510329.1:n.3976-4A>G | |
| ENST00000345136.8:c.4045-4A>G MANE Select | ENSP00000344848.3:n.4045-4A>G | |
| ENST00000527303.2:c.4125+896A>G | ENSP00000433982.2:n.4125+896A>G | |
| ENST00000322810.8:c.4456-4A>G | ENSP00000323856.4:n.4456-4A>G | |
| ENST00000345136.7:c.4045-4A>G | ENSP00000344848.3:n.4045-4A>G | |
| ENST00000354589.7:c.4045-4A>G | ENSP00000346602.3:n.4045-4A>G | |
| ENST00000354958.6:c.3979-4A>G | ENSP00000347044.2:n.3979-4A>G | |
| ENST00000356346.7:c.4003-4A>G MANE Plus Clinical | ENSP00000348702.3:n.4003-4A>G | |
| ENST00000357649.6:c.4057-4A>G | ENSP00000350277.2:n.4057-4A>G | |
| ENST00000398774.6:c.3949-4A>G | ENSP00000381756.2:n.3949-4A>G | |
| ENST00000436759.6:c.4126-4A>G | ENSP00000388180.2:n.4126-4A>G | |
| ENST00000527096.5:c.4114-4A>G | ENSP00000434583.1:n.4114-4A>G | |
| ENST00000527303.1:c.134+896A>G | ||
| NM_000445.4:c.4126-4A>G | NP_000436.2:n.4126-4A>G | |
| NM_201378.3:c.4003-4A>G | NP_958780.1:n.4003-4A>G | |
| NM_201379.2:c.3979-4A>G | NP_958781.1:n.3979-4A>G | |
| NM_201380.3:c.4456-4A>G | NP_958782.1:n.4456-4A>G | |
| NM_201381.2:c.3949-4A>G | NP_958783.1:n.3949-4A>G | |
| NM_201382.3:c.4045-4A>G | NP_958784.1:n.4045-4A>G | |
| NM_201383.2:c.4057-4A>G | NP_958785.1:n.4057-4A>G | |
| NM_201384.2:c.4045-4A>G | NP_958786.1:n.4045-4A>G | |
| XM_005250976.2:c.4471-4A>G | XP_005251033.1:n.4471-4A>G | |
| XM_005250978.2:c.4072-4A>G | XP_005251035.1:n.4072-4A>G | |
| XM_005250979.3:c.4060-4A>G | XP_005251036.1:n.4060-4A>G | |
| XM_005250980.3:c.4060-4A>G | XP_005251037.1:n.4060-4A>G | |
| XM_005250981.2:c.4018-4A>G | XP_005251038.1:n.4018-4A>G | |
| XM_005250982.2:c.3994-4A>G | XP_005251039.1:n.3994-4A>G | |
| XM_005250983.2:c.3976-4A>G | XP_005251040.1:n.3976-4A>G | |
| XM_005250984.3:c.3964-4A>G | XP_005251041.1:n.3964-4A>G | |
| XM_006716588.2:c.4141-4A>G | XP_006716651.1:n.4141-4A>G | |
| XM_006716589.2:c.3991-4A>G | XP_006716652.1:n.3991-4A>G | |
| XM_006716590.2:c.3991-4A>G | XP_006716653.1:n.3991-4A>G | |
| XM_011517130.1:c.4060-4A>G | XP_011515432.1:n.4060-4A>G | |
| XM_011517131.1:c.3976-4A>G | XP_011515433.1:n.3976-4A>G | |
| XM_011517132.1:c.4071+896A>G | XP_011515434.1:n.4071+896A>G | |
| XM_005250976.4:c.4471-4A>G | XP_005251033.1:n.4471-4A>G | |
| XM_005250978.3:c.4072-4A>G | XP_005251035.1:n.4072-4A>G | |
| XM_005250979.4:c.4060-4A>G | XP_005251036.1:n.4060-4A>G | |
| XM_005250980.4:c.4060-4A>G | XP_005251037.1:n.4060-4A>G | |
| XM_005250981.3:c.4018-4A>G | XP_005251038.1:n.4018-4A>G | |
| XM_005250982.4:c.3994-4A>G | XP_005251039.1:n.3994-4A>G | |
| XM_005250984.5:c.3964-4A>G | XP_005251041.1:n.3964-4A>G | |
| XM_006716588.3:c.4141-4A>G | XP_006716651.1:n.4141-4A>G | |
| XM_006716590.3:c.3991-4A>G | XP_006716653.1:n.3991-4A>G | |
| XM_011517130.2:c.4060-4A>G | XP_011515432.1:n.4060-4A>G | |
| XM_011517131.2:c.3976-4A>G | XP_011515433.1:n.3976-4A>G | |
| XM_011517132.2:c.4071+896A>G | XP_011515434.1:n.4071+896A>G | |
| NM_000445.5:c.4126-4A>G | NP_000436.2:n.4126-4A>G | |
| NM_201378.4:c.4003-4A>G MANE Plus Clinical | NP_958780.1:n.4003-4A>G | |
| NM_201379.3:c.3979-4A>G | NP_958781.1:n.3979-4A>G | |
| NM_201380.4:c.4456-4A>G | NP_958782.1:n.4456-4A>G | |
| NM_201381.3:c.3949-4A>G | NP_958783.1:n.3949-4A>G | |
| NM_201382.4:c.4045-4A>G | NP_958784.1:n.4045-4A>G | |
| NM_201383.3:c.4057-4A>G | NP_958785.1:n.4057-4A>G | |
| NM_201384.3:c.4045-4A>G MANE Select | NP_958786.1:n.4045-4A>G |