Linked Data
dbSNP Id:
rs753569957
gnomAD v2:
7-92134175-A-C
gnomAD v3:
7-92504861-A-C
gnomAD v4:
7-92504861-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504861A>C , CM000669.2:g.92504861A>C | GRCh38 |
| NC_000007.13:g.92134175A>C , CM000669.1:g.92134175A>C | GRCh37 |
| NC_000007.12:g.91972111A>C | NCBI36 |
| NG_008341.1:g.28671T>G | |
| NG_008341.2:g.28671T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1942T>G MANE Select | ENSP00000248633.4:p.Phe648Val | |
| ENST00000248633.8:c.1942T>G | ENSP00000248633.4:p.Phe648Val | |
| ENST00000428214.5:c.1900+1387T>G | ENSP00000394413.1:n.1900+1387T>G | |
| ENST00000438045.5:c.976T>G | ENSP00000410438.1:p.Phe326Val | |
| ENST00000484913.5:n.1981T>G | ||
| ENST00000496420.5:n.1618T>G | ||
| NM_000466.2:c.1942T>G | NP_000457.1:p.Phe648Val | |
| NM_001282677.1:c.1900+1387T>G | NP_001269606.1:n.1900+1387T>G | |
| NM_001282678.1:c.1318T>G | NP_001269607.1:p.Phe440Val | |
| XM_005250433.3:c.193T>G | XP_005250490.1:p.Phe65Val | |
| XR_242246.3:n.2038T>G | ||
| XM_017012319.2:c.193T>G | XP_016867808.1:p.Phe65Val | |
| XR_001744808.2:n.969T>G | ||
| XR_242246.5:n.1989T>G | ||
| NM_000466.3:c.1942T>G MANE Select | NP_000457.1:p.Phe648Val | |
| NM_001282677.2:c.1900+1387T>G | NP_001269606.1:n.1900+1387T>G | |
| NM_001282678.2:c.1318T>G | NP_001269607.1:p.Phe440Val |