MyVariant.info:
GRCh37
chr7:g.92134176A>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504862A>C , CM000669.2:g.92504862A>C | GRCh38 |
| NC_000007.13:g.92134176A>C , CM000669.1:g.92134176A>C | GRCh37 |
| NC_000007.12:g.91972112A>C | NCBI36 |
| NG_008341.1:g.28670T>G | |
| NG_008341.2:g.28670T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1941T>G MANE Select | ENSP00000248633.4:p.Ala647= | |
| ENST00000248633.8:c.1941T>G | ENSP00000248633.4:p.Ala647= | |
| ENST00000428214.5:c.1900+1386T>G | ENSP00000394413.1:n.1900+1386T>G | |
| ENST00000438045.5:c.975T>G | ENSP00000410438.1:p.Ala325= | |
| ENST00000484913.5:n.1980T>G | ||
| ENST00000496420.5:n.1617T>G | ||
| NM_000466.2:c.1941T>G | NP_000457.1:p.Ala647= | |
| NM_001282677.1:c.1900+1386T>G | NP_001269606.1:n.1900+1386T>G | |
| NM_001282678.1:c.1317T>G | NP_001269607.1:p.Ala439= | |
| XM_005250433.3:c.192T>G | XP_005250490.1:p.Ala64= | |
| XR_242246.3:n.2037T>G | ||
| XM_017012319.2:c.192T>G | XP_016867808.1:p.Ala64= | |
| XR_001744808.2:n.968T>G | ||
| XR_242246.5:n.1988T>G | ||
| NM_000466.3:c.1941T>G MANE Select | NP_000457.1:p.Ala647= | |
| NM_001282677.2:c.1900+1386T>G | NP_001269606.1:n.1900+1386T>G | |
| NM_001282678.2:c.1317T>G | NP_001269607.1:p.Ala439= |