Linked Data
dbSNP Id:
rs1220544264
gnomAD v2:
4-74280841-A-G
gnomAD v3:
4-73415124-A-G
gnomAD v4:
4-73415124-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415124A>G , CM000666.2:g.73415124A>G | GRCh38 |
| NC_000004.11:g.74280841A>G , CM000666.1:g.74280841A>G | GRCh37 |
| NC_000004.10:g.74499705A>G | NCBI36 |
| NG_009291.1:g.15870A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1148A>G MANE Select | ENSP00000295897.4:p.Lys383Arg | |
| ENST00000295897.8:c.1148A>G | ENSP00000295897.4:p.Lys383Arg | |
| ENST00000401494.7:c.803A>G | ENSP00000384695.3:p.Lys268Arg | |
| ENST00000415165.6:c.572A>G | ENSP00000401820.2:p.Lys191Arg | |
| ENST00000476441.6:c.*427A>G | ENSP00000423727.1:n.*427A>G | |
| ENST00000484992.1:n.468A>G | ||
| ENST00000503124.5:c.698A>G | ENSP00000421027.1:p.Lys233Arg | |
| ENST00000504043.1:n.151A>G | ||
| ENST00000505649.5:n.834A>G | ||
| ENST00000509063.5:c.1148A>G | ENSP00000422784.1:p.Lys383Arg | |
| ENST00000511370.1:c.681A>G | ||
| ENST00000621085.4:c.509A>G | ENSP00000483421.1:p.Lys170Arg | |
| ENST00000621628.4:c.509A>G | ENSP00000480485.1:p.Lys170Arg | |
| NM_000477.5:c.1148A>G | NP_000468.1:p.Lys383Arg | |
| NM_000477.6:c.1148A>G | NP_000468.1:p.Lys383Arg | |
| NM_000477.7:c.1148A>G MANE Select | NP_000468.1:p.Lys383Arg |