Linked Data
dbSNP Id:
rs777065672
ExAC:
7:92147039 A / G
gnomAD v2:
7-92147039-A-G
gnomAD v4:
7-92517725-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517725A>G , CM000669.2:g.92517725A>G | GRCh38 |
| NC_000007.13:g.92147039A>G , CM000669.1:g.92147039A>G | GRCh37 |
| NC_000007.12:g.91984975A>G | NCBI36 |
| NG_008341.1:g.15807T>C | |
| NG_008341.2:g.15807T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.790T>C MANE Select | ENSP00000248633.4:p.Ser264Pro | |
| ENST00000248633.8:c.790T>C | ENSP00000248633.4:p.Ser264Pro | |
| ENST00000428214.5:c.790T>C | ENSP00000394413.1:p.Ser264Pro | |
| ENST00000438045.5:c.274-3758T>C | ENSP00000410438.1:n.274-3758T>C | |
| ENST00000484913.5:n.829T>C | ||
| NM_000466.2:c.790T>C | NP_000457.1:p.Ser264Pro | |
| NM_001282677.1:c.790T>C | NP_001269606.1:p.Ser264Pro | |
| NM_001282678.1:c.166T>C | NP_001269607.1:p.Ser56Pro | |
| XR_242246.3:n.886T>C | ||
| XR_242246.5:n.837T>C | ||
| NM_000466.3:c.790T>C MANE Select | NP_000457.1:p.Ser264Pro | |
| NM_001282677.2:c.790T>C | NP_001269606.1:p.Ser264Pro | |
| NM_001282678.2:c.166T>C | NP_001269607.1:p.Ser56Pro |