Linked Data
dbSNP Id:
rs756656023
ExAC:
4:74280823 A / G
gnomAD v2:
4-74280823-A-G
gnomAD v4:
4-73415106-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415106A>G , CM000666.2:g.73415106A>G | GRCh38 |
| NC_000004.11:g.74280823A>G , CM000666.1:g.74280823A>G | GRCh37 |
| NC_000004.10:g.74499687A>G | NCBI36 |
| NG_009291.1:g.15852A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1130A>G MANE Select | ENSP00000295897.4:p.Tyr377Cys | |
| ENST00000295897.8:c.1130A>G | ENSP00000295897.4:p.Tyr377Cys | |
| ENST00000401494.7:c.785A>G | ENSP00000384695.3:p.Tyr262Cys | |
| ENST00000415165.6:c.554A>G | ENSP00000401820.2:p.Tyr185Cys | |
| ENST00000476441.6:c.*409A>G | ENSP00000423727.1:n.*409A>G | |
| ENST00000484992.1:n.450A>G | ||
| ENST00000503124.5:c.680A>G | ENSP00000421027.1:p.Tyr227Cys | |
| ENST00000504043.1:n.133A>G | ||
| ENST00000505649.5:n.816A>G | ||
| ENST00000509063.5:c.1130A>G | ENSP00000422784.1:p.Tyr377Cys | |
| ENST00000511370.1:c.663A>G | ||
| ENST00000621085.4:c.491A>G | ENSP00000483421.1:p.Tyr164Cys | |
| ENST00000621628.4:c.491A>G | ENSP00000480485.1:p.Tyr164Cys | |
| NM_000477.5:c.1130A>G | NP_000468.1:p.Tyr377Cys | |
| NM_000477.6:c.1130A>G | NP_000468.1:p.Tyr377Cys | |
| NM_000477.7:c.1130A>G MANE Select | NP_000468.1:p.Tyr377Cys |