Linked Data
ClinVar Variation Id:
288570
dbSNP Id:
rs886043938
gnomAD v2:
7-42088121-G-A
gnomAD v3:
7-42048522-G-A
gnomAD v4:
7-42048522-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.42048522G>A , CM000669.2:g.42048522G>A | GRCh38 |
| NC_000007.13:g.42088121G>A , CM000669.1:g.42088121G>A | GRCh37 |
| NC_000007.12:g.42054646G>A | NCBI36 |
| NG_008434.1:g.193498C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.648C>T MANE Select | ENSP00000379258.3:p.Ile216= | |
| ENST00000677288.1:c.471C>T | ENSP00000503986.1:p.Ile157= | |
| ENST00000677605.1:c.648C>T | ENSP00000503743.1:p.Ile216= | |
| ENST00000678429.1:c.648C>T | ENSP00000502957.1:p.Ile216= | |
| ENST00000395925.7:c.648C>T | ENSP00000379258.3:p.Ile216= | |
| ENST00000479210.1:n.625C>T | ||
| NM_000168.5:c.648C>T | NP_000159.3:p.Ile216= | |
| XM_005249703.1:c.648C>T | XP_005249760.1:p.Ile216= | |
| XM_005249704.2:c.648C>T | XP_005249761.1:p.Ile216= | |
| XM_011515272.1:c.648C>T | XP_011513574.1:p.Ile216= | |
| XM_011515273.1:c.648C>T | XP_011513575.1:p.Ile216= | |
| XM_011515274.1:c.471C>T | XP_011513576.1:p.Ile157= | |
| XM_011515274.2:c.471C>T | XP_011513576.1:p.Ile157= | |
| XM_017011997.1:c.645C>T | XP_016867486.1:p.Ile215= | |
| NM_000168.6:c.648C>T MANE Select | NP_000159.3:p.Ile216= |