Linked Data
dbSNP Id:
rs753382011
ExAC:
5:148407261 A / G
gnomAD v2:
5-148407261-A-G
gnomAD v3:
5-149027698-A-G
gnomAD v4:
5-149027698-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027698A>G , CM000667.2:g.149027698A>G | GRCh38 |
| NC_000005.9:g.148407261A>G , CM000667.1:g.148407261A>G | GRCh37 |
| NC_000005.8:g.148387454A>G | NCBI36 |
| NG_007947.2:g.40477T>C , LRG_269:g.40477T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.1930T>C | ||
| ENST00000515425.6:c.2034T>C MANE Select | ENSP00000423660.1:p.Phe678= | |
| ENST00000675793.1:c.*1318T>C | ENSP00000502039.1:n.*1318T>C | |
| ENST00000676056.1:c.*1544T>C | ENSP00000501827.1:n.*1544T>C | |
| ENST00000323829.9:c.*1422T>C | ENSP00000313025.5:n.*1422T>C | |
| ENST00000504517.5:c.1564T>C | ENSP00000421779.1:n.1564T>C | |
| ENST00000504690.5:c.2034T>C | ENSP00000425627.1:p.Phe678= | |
| ENST00000510779.1:c.1084T>C | ||
| ENST00000511307.5:c.*1814T>C | ENSP00000421420.1:n.*1814T>C | |
| ENST00000512049.5:c.2013T>C | ENSP00000421860.1:p.Phe671= | |
| ENST00000513604.5:c.*1422T>C | ENSP00000423111.1:n.*1422T>C | |
| ENST00000515425.5:c.2034T>C | ENSP00000423660.1:p.Phe678= | |
| NM_024577.3:c.2034T>C , LRG_269t1:c.2034T>C | NP_078853.2:p.Phe678= | |
| NM_024577.4:c.2034T>C MANE Select | NP_078853.2:p.Phe678= |