Linked Data
ClinVar Variation Id:
93047
ClinVar RCV Id:
RCV000078862
RCV001789069
RCV001789065
RCV001789066
RCV001789068
RCV001789067
RCV001521022
dbSNP Id:
rs11136333
ExAC:
8:145001509 T / C
gnomAD v2:
8-145001509-T-C
gnomAD v3:
8-143927341-T-C
gnomAD v4:
8-143927341-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143927341T>C , CM000670.2:g.143927341T>C | GRCh38 |
| NC_000008.10:g.145001509T>C , CM000670.1:g.145001509T>C | GRCh37 |
| NC_000008.9:g.145073497T>C | NCBI36 |
| NG_012492.1:g.54405A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.3889-6A>G | ENSP00000437303.2:n.3889-6A>G | |
| ENST00000685198.1:c.3808-6A>G | ENSP00000510528.1:n.3808-6A>G | |
| ENST00000687971.1:c.3475-6A>G | ENSP00000510788.1:n.3475-6A>G | |
| ENST00000693060.1:c.3688-6A>G | ENSP00000510329.1:n.3688-6A>G | |
| ENST00000345136.8:c.3757-6A>G MANE Select | ENSP00000344848.3:n.3757-6A>G | |
| ENST00000527303.2:c.3838-6A>G | ENSP00000433982.2:n.3838-6A>G | |
| ENST00000322810.8:c.4168-6A>G | ENSP00000323856.4:n.4168-6A>G | |
| ENST00000345136.7:c.3757-6A>G | ENSP00000344848.3:n.3757-6A>G | |
| ENST00000354589.7:c.3757-6A>G | ENSP00000346602.3:n.3757-6A>G | |
| ENST00000354958.6:c.3691-6A>G | ENSP00000347044.2:n.3691-6A>G | |
| ENST00000356346.7:c.3715-6A>G MANE Plus Clinical | ENSP00000348702.3:n.3715-6A>G | |
| ENST00000357649.6:c.3769-6A>G | ENSP00000350277.2:n.3769-6A>G | |
| ENST00000398774.6:c.3661-6A>G | ENSP00000381756.2:n.3661-6A>G | |
| ENST00000436759.6:c.3838-6A>G | ENSP00000388180.2:n.3838-6A>G | |
| ENST00000527096.5:c.3826-6A>G | ENSP00000434583.1:n.3826-6A>G | |
| NM_000445.4:c.3838-6A>G | NP_000436.2:n.3838-6A>G | |
| NM_201378.3:c.3715-6A>G | NP_958780.1:n.3715-6A>G | |
| NM_201379.2:c.3691-6A>G | NP_958781.1:n.3691-6A>G | |
| NM_201380.3:c.4168-6A>G | NP_958782.1:n.4168-6A>G | |
| NM_201381.2:c.3661-6A>G | NP_958783.1:n.3661-6A>G | |
| NM_201382.3:c.3757-6A>G | NP_958784.1:n.3757-6A>G | |
| NM_201383.2:c.3769-6A>G | NP_958785.1:n.3769-6A>G | |
| NM_201384.2:c.3757-6A>G | NP_958786.1:n.3757-6A>G | |
| XM_005250976.2:c.4183-6A>G | XP_005251033.1:n.4183-6A>G | |
| XM_005250978.2:c.3784-6A>G | XP_005251035.1:n.3784-6A>G | |
| XM_005250979.3:c.3772-6A>G | XP_005251036.1:n.3772-6A>G | |
| XM_005250980.3:c.3772-6A>G | XP_005251037.1:n.3772-6A>G | |
| XM_005250981.2:c.3730-6A>G | XP_005251038.1:n.3730-6A>G | |
| XM_005250982.2:c.3706-6A>G | XP_005251039.1:n.3706-6A>G | |
| XM_005250983.2:c.3688-6A>G | XP_005251040.1:n.3688-6A>G | |
| XM_005250984.3:c.3676-6A>G | XP_005251041.1:n.3676-6A>G | |
| XM_006716588.2:c.3853-6A>G | XP_006716651.1:n.3853-6A>G | |
| XM_006716589.2:c.3703-6A>G | XP_006716652.1:n.3703-6A>G | |
| XM_006716590.2:c.3703-6A>G | XP_006716653.1:n.3703-6A>G | |
| XM_011517130.1:c.3772-6A>G | XP_011515432.1:n.3772-6A>G | |
| XM_011517131.1:c.3688-6A>G | XP_011515433.1:n.3688-6A>G | |
| XM_011517132.1:c.3784-6A>G | XP_011515434.1:n.3784-6A>G | |
| XM_005250976.4:c.4183-6A>G | XP_005251033.1:n.4183-6A>G | |
| XM_005250978.3:c.3784-6A>G | XP_005251035.1:n.3784-6A>G | |
| XM_005250979.4:c.3772-6A>G | XP_005251036.1:n.3772-6A>G | |
| XM_005250980.4:c.3772-6A>G | XP_005251037.1:n.3772-6A>G | |
| XM_005250981.3:c.3730-6A>G | XP_005251038.1:n.3730-6A>G | |
| XM_005250982.4:c.3706-6A>G | XP_005251039.1:n.3706-6A>G | |
| XM_005250984.5:c.3676-6A>G | XP_005251041.1:n.3676-6A>G | |
| XM_006716588.3:c.3853-6A>G | XP_006716651.1:n.3853-6A>G | |
| XM_006716590.3:c.3703-6A>G | XP_006716653.1:n.3703-6A>G | |
| XM_011517130.2:c.3772-6A>G | XP_011515432.1:n.3772-6A>G | |
| XM_011517131.2:c.3688-6A>G | XP_011515433.1:n.3688-6A>G | |
| XM_011517132.2:c.3784-6A>G | XP_011515434.1:n.3784-6A>G | |
| NM_000445.5:c.3838-6A>G | NP_000436.2:n.3838-6A>G | |
| NM_201378.4:c.3715-6A>G MANE Plus Clinical | NP_958780.1:n.3715-6A>G | |
| NM_201379.3:c.3691-6A>G | NP_958781.1:n.3691-6A>G | |
| NM_201380.4:c.4168-6A>G | NP_958782.1:n.4168-6A>G | |
| NM_201381.3:c.3661-6A>G | NP_958783.1:n.3661-6A>G | |
| NM_201382.4:c.3757-6A>G | NP_958784.1:n.3757-6A>G | |
| NM_201383.3:c.3769-6A>G | NP_958785.1:n.3769-6A>G | |
| NM_201384.3:c.3757-6A>G MANE Select | NP_958786.1:n.3757-6A>G |