Linked Data
dbSNP Id:
rs755511654
ExAC:
17:45363715 A / G
gnomAD v2:
17-45363715-A-G
gnomAD v4:
17-47286349-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286349A>G , CM000679.2:g.47286349A>G | GRCh38 |
| NC_000017.10:g.45363715A>G , CM000679.1:g.45363715A>G | GRCh37 |
| NC_000017.9:g.42718714A>G | NCBI36 |
| NG_008332.2:g.37508A>G , LRG_481:g.37508A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.704A>G | ENSP00000513002.1:p.Lys235Arg | |
| ENST00000559488.7:c.704A>G MANE Select | ENSP00000452786.2:p.Lys235Arg | |
| ENST00000559488.5:c.704A>G | ENSP00000452786.1:p.Lys235Arg | |
| ENST00000560629.1:c.669A>G | ||
| ENST00000571680.1:c.704A>G | ENSP00000461626.1:p.Lys235Arg | |
| NM_000212.2:c.704A>G , LRG_481t1:c.704A>G | NP_000203.2:p.Lys235Arg | |
| NM_000212.3:c.704A>G MANE Select | NP_000203.2:p.Lys235Arg |