Linked Data
dbSNP Id:
rs748598310
ExAC:
7:33136142 T / C
gnomAD v3:
7-33096530-T-C
gnomAD v4:
7-33096530-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33096530T>C , CM000669.2:g.33096530T>C | GRCh38 |
| NC_000007.13:g.33136142T>C , CM000669.1:g.33136142T>C | GRCh37 |
| NC_000007.12:g.33102667T>C | NCBI36 |
| NG_012968.1:g.17861A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474370.2:n.2403A>G | ||
| ENST00000492391.2:n.1554A>G | ||
| ENST00000682645.1:n.3501A>G | ||
| ENST00000683432.1:c.*605A>G | ENSP00000508174.1:n.*605A>G | |
| ENST00000684207.1:c.430A>G | ENSP00000506942.1:p.Ile144Val | |
| ENST00000297157.8:c.430A>G MANE Select | ENSP00000297157.3:p.Ile144Val | |
| ENST00000297157.7:c.430A>G | ENSP00000297157.3:p.Ile144Val | |
| ENST00000448915.1:c.328A>G | ENSP00000411577.1:p.Ile110Val | |
| NM_203288.1:c.430A>G | NP_976033.1:p.Ile144Val | |
| XM_011515468.1:c.328A>G | XP_011513770.1:p.Ile110Val | |
| XM_011515468.3:c.328A>G | XP_011513770.1:p.Ile110Val | |
| NM_203288.2:c.430A>G MANE Select | NP_976033.1:p.Ile144Val |