Linked Data
dbSNP Id:
rs1419538315
gnomAD v2:
7-66458332-T-C
gnomAD v3:
7-66993345-T-C
gnomAD v4:
7-66993345-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66993345T>C , CM000669.2:g.66993345T>C | GRCh38 |
| NC_000007.13:g.66458332T>C , CM000669.1:g.66458332T>C | GRCh37 |
| NC_000007.12:g.66095767T>C | NCBI36 |
| NG_007277.1:g.7257A>G , LRG_104:g.7257A>G | |
| NG_033069.1:g.1541T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414306.6:c.*62A>G | ENSP00000394586.1:n.*62A>G | |
| ENST00000697860.1:n.298A>G | ||
| ENST00000697861.1:c.258+867A>G | ENSP00000513460.1:n.258+867A>G | |
| ENST00000697862.1:c.331A>G | ENSP00000513461.1:p.Ile111Val | |
| ENST00000697863.1:c.274A>G | ENSP00000513462.1:p.Ile92Val | |
| ENST00000697864.1:n.1475A>G | ||
| ENST00000697865.1:c.274A>G | ENSP00000513463.1:p.Ile92Val | |
| ENST00000697866.1:c.13A>G | ENSP00000513464.1:p.Ile5Val | |
| ENST00000697867.1:c.171A>G | ||
| ENST00000697868.1:c.*95A>G | ENSP00000513466.1:n.*95A>G | |
| ENST00000697869.1:c.*66A>G | ENSP00000513467.1:n.*66A>G | |
| ENST00000697897.1:c.331A>G | ENSP00000513469.1:p.Ile111Val | |
| ENST00000246868.7:c.331A>G MANE Select | ENSP00000246868.2:p.Ile111Val | |
| ENST00000246868.6:c.331A>G | ENSP00000246868.2:p.Ile111Val | |
| ENST00000414306.5:c.*62A>G | ENSP00000394586.1:n.*62A>G | |
| ENST00000463579.1:n.220A>G | ||
| ENST00000490953.5:n.472A>G | ||
| ENST00000617799.1:c.331A>G | ENSP00000483040.1:p.Ile111Val | |
| NM_016038.2:c.331A>G , LRG_104t1:c.331A>G | NP_057122.2:p.Ile111Val | |
| NM_016038.3:c.331A>G | NP_057122.2:p.Ile111Val | |
| NM_016038.4:c.331A>G MANE Select | NP_057122.2:p.Ile111Val |