Linked Data
ClinVar Variation Id:
402928
ClinVar RCV Id:
RCV000455354
dbSNP Id:
rs1060499865
gnomAD v2:
7-18833039-C-T
gnomAD v4:
7-18793416-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.18793416C>T , CM000669.2:g.18793416C>T | GRCh38 |
| NC_000007.13:g.18833039C>T , CM000669.1:g.18833039C>T | GRCh37 |
| NC_000007.12:g.18799564C>T | NCBI36 |
| NG_023250.2:g.711468C>T | |
| NG_023250.3:g.711468C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686413.1:c.2286C>T MANE Select | ENSP00000509161.1:p.Ile762= | |
| ENST00000441542.7:c.2286C>T | ENSP00000408617.2:p.Ile762= | |
| ENST00000401921.5:c.2154C>T | ENSP00000383912.1:p.Ile718= | |
| ENST00000406451.8:c.2277C>T | ENSP00000384657.3:p.Ile759= | |
| ENST00000432645.6:c.2277C>T | ENSP00000410337.2:p.Ile759= | |
| ENST00000441542.6:c.2286C>T | ENSP00000408617.2:p.Ile762= | |
| ENST00000461159.6:n.2289C>T | ||
| ENST00000490851.5:n.258C>T | ||
| ENST00000523867.5:n.2277C>T | ||
| NM_058176.2:c.2277C>T | NP_478056.1:p.Ile759= | |
| NM_178423.1:c.2277C>T | NP_848510.1:p.Ile759= | |
| NM_178425.2:c.2286C>T | NP_848512.1:p.Ile762= | |
| XM_011515626.1:c.2442C>T | XP_011513928.1:p.Ile814= | |
| XM_011515627.1:c.2352C>T | XP_011513929.1:p.Ile784= | |
| XM_011515628.1:c.2349C>T | XP_011513930.1:p.Ile783= | |
| XM_011515629.1:c.2343C>T | XP_011513931.1:p.Ile781= | |
| XM_011515630.1:c.2337C>T | XP_011513932.1:p.Ile779= | |
| XM_011515631.1:c.2367C>T | XP_011513933.1:p.Ile789= | |
| XM_011515632.1:c.2358C>T | XP_011513934.1:p.Ile786= | |
| XM_011515633.1:c.2226C>T | XP_011513935.1:p.Ile742= | |
| XM_011515634.1:c.2211C>T | XP_011513936.1:p.Ile737= | |
| XM_011515635.1:c.2301C>T | XP_011513937.1:p.Ile767= | |
| XM_011515636.1:c.2292C>T | XP_011513938.1:p.Ile764= | |
| XM_011515637.1:c.2292C>T | XP_011513939.1:p.Ile764= | |
| XM_011515638.1:c.2286C>T | XP_011513940.1:p.Ile762= | |
| XM_011515639.1:c.2286C>T | XP_011513941.1:p.Ile762= | |
| XM_011515640.1:c.2208C>T | XP_011513942.1:p.Ile736= | |
| XM_011515641.1:c.2208C>T | XP_011513943.1:p.Ile736= | |
| XM_011515642.1:c.2208C>T | XP_011513944.1:p.Ile736= | |
| XM_011515643.1:c.2208C>T | XP_011513945.1:p.Ile736= | |
| XM_011515644.1:c.2193C>T | XP_011513946.1:p.Ile731= | |
| XM_011515645.1:c.2193C>T | XP_011513947.1:p.Ile731= | |
| XM_011515646.1:c.2184C>T | XP_011513948.1:p.Ile728= | |
| XM_011515647.1:c.2358C>T | XP_011513949.1:p.Ile786= | |
| XM_011515648.1:c.2301C>T | XP_011513950.1:p.Ile767= | |
| XM_011515649.1:c.2301C>T | XP_011513951.1:p.Ile767= | |
| XR_926952.1:n.2296C>T | ||
| NM_001321868.1:c.2211C>T | NP_001308797.1:p.Ile737= | |
| NM_001321877.1:c.2154C>T | NP_001308806.1:p.Ile718= | |
| NM_001321897.1:c.2154C>T | NP_001308826.1:p.Ile718= | |
| NM_178423.2:c.2277C>T | NP_848510.1:p.Ile759= | |
| NM_178425.3:c.2286C>T | NP_848512.1:p.Ile762= | |
| NM_001321868.2:c.2211C>T | NP_001308797.1:p.Ile737= | |
| NM_001321877.2:c.2154C>T | NP_001308806.1:p.Ile718= | |
| NM_001321897.2:c.2154C>T | NP_001308826.1:p.Ile718= | |
| NM_178423.3:c.2277C>T | NP_848510.1:p.Ile759= | |
| NM_178425.4:c.2286C>T MANE Select | NP_848512.1:p.Ile762= |