Linked Data
ClinVar Variation Id:
44590
dbSNP Id:
rs148968935
ExAC:
15:66774172 C / T
gnomAD v2:
15-66774172-C-T
gnomAD v3:
15-66481834-C-T
gnomAD v4:
15-66481834-C-T
ERepo:
CA134607/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66481834C>T , CM000677.2:g.66481834C>T | GRCh38 |
| NC_000015.9:g.66774172C>T , CM000677.1:g.66774172C>T | GRCh37 |
| NC_000015.8:g.64561226C>T | NCBI36 |
| NG_008305.1:g.99962C>T , LRG_725:g.99962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.582C>T | ENSP00000508681.1:p.Ile194= | |
| ENST00000685172.1:c.648C>T | ENSP00000509604.1:p.Ile216= | |
| ENST00000685763.1:c.501C>T | ENSP00000509016.1:p.Ile167= | |
| ENST00000686347.1:c.569-5394C>T | ENSP00000509027.1:n.569-5394C>T | |
| ENST00000687191.1:n.1006C>T | ||
| ENST00000689951.1:c.699C>T | ENSP00000509308.1:p.Ile233= | |
| ENST00000691077.1:c.648C>T | ENSP00000509843.1:p.Ile216= | |
| ENST00000691576.1:c.569-3160C>T | ENSP00000510066.1:n.569-3160C>T | |
| ENST00000691937.1:c.648C>T | ENSP00000508768.1:p.Ile216= | |
| ENST00000692487.1:c.648C>T | ENSP00000509534.1:p.Ile216= | |
| ENST00000692683.1:c.582C>T | ENSP00000508437.1:p.Ile194= | |
| ENST00000693150.1:c.504C>T | ENSP00000510309.1:p.Ile168= | |
| ENST00000307102.10:c.648C>T MANE Select | ENSP00000302486.5:p.Ile216= | |
| ENST00000307102.9:c.648C>T | ENSP00000302486.4:p.Ile216= | |
| ENST00000566326.1:c.120C>T | ENSP00000456438.1:p.Ile40= | |
| NM_002755.3:c.648C>T , LRG_725t1:c.648C>T | NP_002746.1:p.Ile216= | |
| XM_011521783.1:c.582C>T | XP_011520085.1:p.Ile194= | |
| XM_011521783.3:c.582C>T | XP_011520085.1:p.Ile194= | |
| XM_017022411.2:c.570C>T | XP_016877900.1:p.Ile190= | |
| XM_017022412.1:c.504C>T | XP_016877901.1:p.Ile168= | |
| XM_017022413.1:c.120C>T | XP_016877902.1:p.Ile40= | |
| NM_002755.4:c.648C>T MANE Select | NP_002746.1:p.Ile216= |