Linked Data
ClinVar Variation Id:
287502
dbSNP Id:
rs143206380
ExAC:
7:92146938 T / C
gnomAD v2:
7-92146938-T-C
gnomAD v3:
7-92517624-T-C
gnomAD v4:
7-92517624-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517624T>C , CM000669.2:g.92517624T>C | GRCh38 |
| NC_000007.13:g.92146938T>C , CM000669.1:g.92146938T>C | GRCh37 |
| NC_000007.12:g.91984874T>C | NCBI36 |
| NG_008341.1:g.15908A>G | |
| NG_008341.2:g.15908A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.891A>G MANE Select | ENSP00000248633.4:p.Ile297Met | |
| ENST00000248633.8:c.891A>G | ENSP00000248633.4:p.Ile297Met | |
| ENST00000428214.5:c.891A>G | ENSP00000394413.1:p.Ile297Met | |
| ENST00000438045.5:c.274-3657A>G | ENSP00000410438.1:n.274-3657A>G | |
| ENST00000484913.5:n.930A>G | ||
| NM_000466.2:c.891A>G | NP_000457.1:p.Ile297Met | |
| NM_001282677.1:c.891A>G | NP_001269606.1:p.Ile297Met | |
| NM_001282678.1:c.267A>G | NP_001269607.1:p.Ile89Met | |
| XR_242246.3:n.987A>G | ||
| XM_017012319.2:c.-776A>G | XP_016867808.1:n.-776A>G | |
| XR_001744808.2:n.1A>G | ||
| XR_242246.5:n.938A>G | ||
| NM_000466.3:c.891A>G MANE Select | NP_000457.1:p.Ile297Met | |
| NM_001282677.2:c.891A>G | NP_001269606.1:p.Ile297Met | |
| NM_001282678.2:c.267A>G | NP_001269607.1:p.Ile89Met |