Linked Data
gnomAD v4:
7-92510940-T-C
COSMIC:
COSM1643427
MyVariant Identifiers:
chr7:g.92140254T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92510940T>C , CM000669.2:g.92510940T>C | GRCh38 |
| NC_000007.13:g.92140254T>C , CM000669.1:g.92140254T>C | GRCh37 |
| NC_000007.12:g.91978190T>C | NCBI36 |
| NG_008341.1:g.22592A>G | |
| NG_008341.2:g.22592A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1587+4A>G MANE Select | ENSP00000248633.4:n.1587+4A>G | |
| ENST00000248633.8:c.1587+4A>G | ENSP00000248633.4:n.1587+4A>G | |
| ENST00000422866.1:c.488+4A>G | ||
| ENST00000428214.5:c.1587+4A>G | ENSP00000394413.1:n.1587+4A>G | |
| ENST00000438045.5:c.621+4A>G | ENSP00000410438.1:n.621+4A>G | |
| ENST00000476923.1:n.352A>G | ||
| ENST00000484913.5:n.1626+4A>G | ||
| NM_000466.2:c.1587+4A>G | NP_000457.1:n.1587+4A>G | |
| NM_001282677.1:c.1587+4A>G | NP_001269606.1:n.1587+4A>G | |
| NM_001282678.1:c.963+4A>G | NP_001269607.1:n.963+4A>G | |
| XM_005250433.3:c.-80+4A>G | XP_005250490.1:n.-80+4A>G | |
| XR_242246.3:n.1683+4A>G | ||
| XM_017012319.2:c.-80+4A>G | XP_016867808.1:n.-80+4A>G | |
| XR_001744808.2:n.697+4A>G | ||
| XR_242246.5:n.1634+4A>G | ||
| NM_000466.3:c.1587+4A>G MANE Select | NP_000457.1:n.1587+4A>G | |
| NM_001282677.2:c.1587+4A>G | NP_001269606.1:n.1587+4A>G | |
| NM_001282678.2:c.963+4A>G | NP_001269607.1:n.963+4A>G |