Linked Data
dbSNP Id:
rs902105050
gnomAD v2:
7-66458369-T-C
gnomAD v3:
7-66993382-T-C
gnomAD v4:
7-66993382-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66993382T>C , CM000669.2:g.66993382T>C | GRCh38 |
| NC_000007.13:g.66458369T>C , CM000669.1:g.66458369T>C | GRCh37 |
| NC_000007.12:g.66095804T>C | NCBI36 |
| NG_007277.1:g.7220A>G , LRG_104:g.7220A>G | |
| NG_033069.1:g.1578T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414306.6:c.*25A>G | ENSP00000394586.1:n.*25A>G | |
| ENST00000697860.1:n.261A>G | ||
| ENST00000697861.1:c.258+830A>G | ENSP00000513460.1:n.258+830A>G | |
| ENST00000697862.1:c.294A>G | ENSP00000513461.1:p.Lys98= | |
| ENST00000697863.1:c.237A>G | ENSP00000513462.1:p.Lys79= | |
| ENST00000697864.1:n.1438A>G | ||
| ENST00000697865.1:c.237A>G | ENSP00000513463.1:p.Lys79= | |
| ENST00000697866.1:c.-25A>G | ENSP00000513464.1:n.-25A>G | |
| ENST00000697867.1:c.134A>G | ||
| ENST00000697868.1:c.*58A>G | ENSP00000513466.1:n.*58A>G | |
| ENST00000697869.1:c.*29A>G | ENSP00000513467.1:n.*29A>G | |
| ENST00000697897.1:c.294A>G | ENSP00000513469.1:p.Lys98= | |
| ENST00000246868.7:c.294A>G MANE Select | ENSP00000246868.2:p.Lys98= | |
| ENST00000246868.6:c.294A>G | ENSP00000246868.2:p.Lys98= | |
| ENST00000414306.5:c.*25A>G | ENSP00000394586.1:n.*25A>G | |
| ENST00000463579.1:n.183A>G | ||
| ENST00000490953.5:n.435A>G | ||
| ENST00000617799.1:c.294A>G | ENSP00000483040.1:p.Lys98= | |
| NM_016038.2:c.294A>G , LRG_104t1:c.294A>G | NP_057122.2:p.Lys98= | |
| NM_016038.3:c.294A>G | NP_057122.2:p.Lys98= | |
| NM_016038.4:c.294A>G MANE Select | NP_057122.2:p.Lys98= |