Linked Data
dbSNP Id:
rs752778009
ExAC:
7:92132393 T / C
gnomAD v2:
7-92132393-T-C
gnomAD v4:
7-92503079-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92503079T>C , CM000669.2:g.92503079T>C | GRCh38 |
| NC_000007.13:g.92132393T>C , CM000669.1:g.92132393T>C | GRCh37 |
| NC_000007.12:g.91970329T>C | NCBI36 |
| NG_008341.1:g.30453A>G | |
| NG_008341.2:g.30453A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2188A>G MANE Select | ENSP00000248633.4:p.Ile730Val | |
| ENST00000248633.8:c.2188A>G | ENSP00000248633.4:p.Ile730Val | |
| ENST00000428214.5:c.2017A>G | ENSP00000394413.1:p.Ile673Val | |
| ENST00000438045.5:c.1222A>G | ENSP00000410438.1:p.Ile408Val | |
| ENST00000484913.5:n.2227A>G | ||
| ENST00000496420.5:n.1864A>G | ||
| NM_000466.2:c.2188A>G | NP_000457.1:p.Ile730Val | |
| NM_001282677.1:c.2017A>G | NP_001269606.1:p.Ile673Val | |
| NM_001282678.1:c.1564A>G | NP_001269607.1:p.Ile522Val | |
| XM_005250433.3:c.439A>G | XP_005250490.1:p.Ile147Val | |
| XR_242246.3:n.2284A>G | ||
| XM_017012319.2:c.439A>G | XP_016867808.1:p.Ile147Val | |
| XR_001744808.2:n.1215A>G | ||
| XR_242246.5:n.2235A>G | ||
| NM_000466.3:c.2188A>G MANE Select | NP_000457.1:p.Ile730Val | |
| NM_001282677.2:c.2017A>G | NP_001269606.1:p.Ile673Val | |
| NM_001282678.2:c.1564A>G | NP_001269607.1:p.Ile522Val |