Linked Data
dbSNP Id:
rs567621076
ExAC:
5:148407112 C / G
gnomAD v2:
5-148407112-C-G
gnomAD v3:
5-149027549-C-G
gnomAD v4:
5-149027549-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027549C>G , CM000667.2:g.149027549C>G | GRCh38 |
| NC_000005.9:g.148407112C>G , CM000667.1:g.148407112C>G | GRCh37 |
| NC_000005.8:g.148387305C>G | NCBI36 |
| NG_007947.2:g.40626G>C , LRG_269:g.40626G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502274.2:c.2079G>C | ||
| ENST00000515425.6:c.2183G>C MANE Select | ENSP00000423660.1:p.Gly728Ala | |
| ENST00000675793.1:c.*1467G>C | ENSP00000502039.1:n.*1467G>C | |
| ENST00000676056.1:c.*1693G>C | ENSP00000501827.1:n.*1693G>C | |
| ENST00000323829.9:c.*1571G>C | ENSP00000313025.5:n.*1571G>C | |
| ENST00000504517.5:c.1713G>C | ENSP00000421779.1:n.1713G>C | |
| ENST00000504690.5:c.2183G>C | ENSP00000425627.1:p.Gly728Ala | |
| ENST00000510779.1:c.1233G>C | ||
| ENST00000511307.5:c.*1963G>C | ENSP00000421420.1:n.*1963G>C | |
| ENST00000512049.5:c.2162G>C | ENSP00000421860.1:p.Gly721Ala | |
| ENST00000513604.5:c.*1571G>C | ENSP00000423111.1:n.*1571G>C | |
| ENST00000515425.5:c.2183G>C | ENSP00000423660.1:p.Gly728Ala | |
| NM_024577.3:c.2183G>C , LRG_269t1:c.2183G>C | NP_078853.2:p.Gly728Ala | |
| NM_024577.4:c.2183G>C MANE Select | NP_078853.2:p.Gly728Ala |