Linked Data
dbSNP Id:
rs749048311
ExAC:
7:66458354 T / C
gnomAD v2:
7-66458354-T-C
gnomAD v4:
7-66993367-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66993367T>C , CM000669.2:g.66993367T>C | GRCh38 |
| NC_000007.13:g.66458354T>C , CM000669.1:g.66458354T>C | GRCh37 |
| NC_000007.12:g.66095789T>C | NCBI36 |
| NG_007277.1:g.7235A>G , LRG_104:g.7235A>G | |
| NG_033069.1:g.1563T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414306.6:c.*40A>G | ENSP00000394586.1:n.*40A>G | |
| ENST00000697860.1:n.276A>G | ||
| ENST00000697861.1:c.258+845A>G | ENSP00000513460.1:n.258+845A>G | |
| ENST00000697862.1:c.309A>G | ENSP00000513461.1:p.Gln103= | |
| ENST00000697863.1:c.252A>G | ENSP00000513462.1:p.Gln84= | |
| ENST00000697864.1:n.1453A>G | ||
| ENST00000697865.1:c.252A>G | ENSP00000513463.1:p.Gln84= | |
| ENST00000697866.1:c.-10A>G | ENSP00000513464.1:n.-10A>G | |
| ENST00000697867.1:c.149A>G | ||
| ENST00000697868.1:c.*73A>G | ENSP00000513466.1:n.*73A>G | |
| ENST00000697869.1:c.*44A>G | ENSP00000513467.1:n.*44A>G | |
| ENST00000697897.1:c.309A>G | ENSP00000513469.1:p.Gln103= | |
| ENST00000246868.7:c.309A>G MANE Select | ENSP00000246868.2:p.Gln103= | |
| ENST00000246868.6:c.309A>G | ENSP00000246868.2:p.Gln103= | |
| ENST00000414306.5:c.*40A>G | ENSP00000394586.1:n.*40A>G | |
| ENST00000463579.1:n.198A>G | ||
| ENST00000490953.5:n.450A>G | ||
| ENST00000617799.1:c.309A>G | ENSP00000483040.1:p.Gln103= | |
| NM_016038.2:c.309A>G , LRG_104t1:c.309A>G | NP_057122.2:p.Gln103= | |
| NM_016038.3:c.309A>G | NP_057122.2:p.Gln103= | |
| NM_016038.4:c.309A>G MANE Select | NP_057122.2:p.Gln103= |