Linked Data
dbSNP Id:
rs766567736
ExAC:
5:148406205 T / G
gnomAD v2:
5-148406205-T-G
gnomAD v4:
5-149026642-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149026642T>G , CM000667.2:g.149026642T>G | GRCh38 |
| NC_000005.9:g.148406205T>G , CM000667.1:g.148406205T>G | GRCh37 |
| NC_000005.8:g.148386398T>G | NCBI36 |
| NG_007947.2:g.41533A>C , LRG_269:g.41533A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.2879A>C | ||
| ENST00000515425.6:c.2983A>C MANE Select | ENSP00000423660.1:p.Arg995= | |
| ENST00000675793.1:c.*2267A>C | ENSP00000502039.1:n.*2267A>C | |
| ENST00000676056.1:c.*2493A>C | ENSP00000501827.1:n.*2493A>C | |
| ENST00000323829.9:c.*2371A>C | ENSP00000313025.5:n.*2371A>C | |
| ENST00000504517.5:c.2513A>C | ENSP00000421779.1:n.2513A>C | |
| ENST00000504690.5:c.2983A>C | ENSP00000425627.1:p.Arg995= | |
| ENST00000510779.1:c.2033A>C | ||
| ENST00000511307.5:c.*2870A>C | ENSP00000421420.1:n.*2870A>C | |
| ENST00000512049.5:c.2962A>C | ENSP00000421860.1:p.Arg988= | |
| ENST00000513604.5:c.*2478A>C | ENSP00000423111.1:n.*2478A>C | |
| ENST00000515425.5:c.2983A>C | ENSP00000423660.1:p.Arg995= | |
| NM_024577.3:c.2983A>C , LRG_269t1:c.2983A>C | NP_078853.2:p.Arg995= | |
| NM_024577.4:c.2983A>C MANE Select | NP_078853.2:p.Arg995= |