Linked Data
dbSNP Id:
rs750958612
ExAC:
7:99365980 T / G
gnomAD v2:
7-99365980-T-G
gnomAD v3:
7-99768357-T-G
gnomAD v4:
7-99768357-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99768357T>G , CM000669.2:g.99768357T>G | GRCh38 |
| NC_000007.13:g.99365980T>G , CM000669.1:g.99365980T>G | GRCh37 |
| NC_000007.12:g.99203916T>G | NCBI36 |
| NG_008421.1:g.20829A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336411.7:c.667A>C | ENSP00000337915.3:p.Ile223Leu | |
| ENST00000651514.1:c.667A>C MANE Select | ENSP00000498939.1:p.Ile223Leu | |
| ENST00000651783.1:c.208A>C | ENSP00000498924.1:p.Ile70Leu | |
| ENST00000652018.1:c.520A>C | ENSP00000498733.1:p.Ile174Leu | |
| ENST00000336411.6:c.667A>C | ENSP00000337915.2:p.Ile223Leu | |
| ENST00000354593.6:c.217A>C | ENSP00000346607.2:p.Ile73Leu | |
| NM_001202855.2:c.667A>C | NP_001189784.1:p.Ile223Leu | |
| NM_017460.5:c.667A>C | NP_059488.2:p.Ile223Leu | |
| XM_011515841.1:c.667A>C | XP_011514143.1:p.Ile223Leu | |
| XM_011515842.1:c.667A>C | XP_011514144.1:p.Ile223Leu | |
| NM_017460.6:c.667A>C MANE Select | NP_059488.2:p.Ile223Leu | |
| NM_001202855.3:c.667A>C | NP_001189784.1:p.Ile223Leu |