Linked Data
ClinVar Variation Id:
596048
dbSNP Id:
rs771520057
ExAC:
7:92140338 T / C
gnomAD v2:
7-92140338-T-C
gnomAD v4:
7-92511024-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92511024T>C , CM000669.2:g.92511024T>C | GRCh38 |
| NC_000007.13:g.92140338T>C , CM000669.1:g.92140338T>C | GRCh37 |
| NC_000007.12:g.91978274T>C | NCBI36 |
| NG_008341.1:g.22508A>G | |
| NG_008341.2:g.22508A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1507A>G MANE Select | ENSP00000248633.4:p.Ile503Val | |
| ENST00000248633.8:c.1507A>G | ENSP00000248633.4:p.Ile503Val | |
| ENST00000422866.1:c.408A>G | ||
| ENST00000428214.5:c.1507A>G | ENSP00000394413.1:p.Ile503Val | |
| ENST00000438045.5:c.541A>G | ENSP00000410438.1:p.Ile181Val | |
| ENST00000476923.1:n.268A>G | ||
| ENST00000484913.5:n.1546A>G | ||
| NM_000466.2:c.1507A>G | NP_000457.1:p.Ile503Val | |
| NM_001282677.1:c.1507A>G | NP_001269606.1:p.Ile503Val | |
| NM_001282678.1:c.883A>G | NP_001269607.1:p.Ile295Val | |
| XM_005250433.3:c.-160A>G | XP_005250490.1:n.-160A>G | |
| XR_242246.3:n.1603A>G | ||
| XM_017012319.2:c.-160A>G | XP_016867808.1:n.-160A>G | |
| XR_001744808.2:n.617A>G | ||
| XR_242246.5:n.1554A>G | ||
| NM_000466.3:c.1507A>G MANE Select | NP_000457.1:p.Ile503Val | |
| NM_001282677.2:c.1507A>G | NP_001269606.1:p.Ile503Val | |
| NM_001282678.2:c.883A>G | NP_001269607.1:p.Ile295Val |