Linked Data
ClinVar Variation Id:
972293
ClinVar RCV Id:
RCV001248287
dbSNP Id:
rs376029287
gnomAD v2:
7-92126067-T-A
gnomAD v3:
7-92496753-T-A
gnomAD v4:
7-92496753-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92496753T>A , CM000669.2:g.92496753T>A | GRCh38 |
| NC_000007.13:g.92126067T>A , CM000669.1:g.92126067T>A | GRCh37 |
| NC_000007.12:g.91964003T>A | NCBI36 |
| NG_008341.1:g.36779A>T | |
| NG_008341.2:g.36779A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2743A>T MANE Select | ENSP00000248633.4:p.Ile915Phe | |
| ENST00000248633.8:c.2743A>T | ENSP00000248633.4:p.Ile915Phe | |
| ENST00000428214.5:c.2572A>T | ENSP00000394413.1:p.Ile858Phe | |
| ENST00000438045.5:c.1777A>T | ENSP00000410438.1:p.Ile593Phe | |
| ENST00000484913.5:n.2782A>T | ||
| ENST00000496420.5:n.2635A>T | ||
| NM_000466.2:c.2743A>T | NP_000457.1:p.Ile915Phe | |
| NM_001282677.1:c.2572A>T | NP_001269606.1:p.Ile858Phe | |
| NM_001282678.1:c.2119A>T | NP_001269607.1:p.Ile707Phe | |
| XM_005250433.3:c.994A>T | XP_005250490.1:p.Ile332Phe | |
| XR_242246.3:n.2839A>T | ||
| XM_017012319.2:c.994A>T | XP_016867808.1:p.Ile332Phe | |
| XR_001744808.2:n.1770A>T | ||
| XR_242246.5:n.2790A>T | ||
| NM_000466.3:c.2743A>T MANE Select | NP_000457.1:p.Ile915Phe | |
| NM_001282677.2:c.2572A>T | NP_001269606.1:p.Ile858Phe | |
| NM_001282678.2:c.2119A>T | NP_001269607.1:p.Ile707Phe |