Linked Data
dbSNP Id:
rs771966334
ExAC:
4:74280772 G / A
gnomAD v2:
4-74280772-G-A
gnomAD v3:
4-73415055-G-A
gnomAD v4:
4-73415055-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415055G>A , CM000666.2:g.73415055G>A | GRCh38 |
| NC_000004.11:g.74280772G>A , CM000666.1:g.74280772G>A | GRCh37 |
| NC_000004.10:g.74499636G>A | NCBI36 |
| NG_009291.1:g.15801G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1079G>A MANE Select | ENSP00000295897.4:p.Arg360Lys | |
| ENST00000295897.8:c.1079G>A | ENSP00000295897.4:p.Arg360Lys | |
| ENST00000401494.7:c.734G>A | ENSP00000384695.3:p.Arg245Lys | |
| ENST00000415165.6:c.503G>A | ENSP00000401820.2:p.Arg168Lys | |
| ENST00000476441.6:c.*358G>A | ENSP00000423727.1:n.*358G>A | |
| ENST00000484992.1:n.399G>A | ||
| ENST00000503124.5:c.629G>A | ENSP00000421027.1:p.Arg210Lys | |
| ENST00000504043.1:n.82G>A | ||
| ENST00000505649.5:n.765G>A | ||
| ENST00000509063.5:c.1079G>A | ENSP00000422784.1:p.Arg360Lys | |
| ENST00000511370.1:c.612G>A | ||
| ENST00000621085.4:c.491-51G>A | ENSP00000483421.1:n.491-51G>A | |
| ENST00000621628.4:c.487-47G>A | ENSP00000480485.1:n.487-47G>A | |
| NM_000477.5:c.1079G>A | NP_000468.1:p.Arg360Lys | |
| NM_000477.6:c.1079G>A | NP_000468.1:p.Arg360Lys | |
| NM_000477.7:c.1079G>A MANE Select | NP_000468.1:p.Arg360Lys |