Linked Data
dbSNP Id:
rs776487747
ExAC:
4:74280787 A / C
gnomAD v2:
4-74280787-A-C
gnomAD v4:
4-73415070-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415070A>C , CM000666.2:g.73415070A>C | GRCh38 |
| NC_000004.11:g.74280787A>C , CM000666.1:g.74280787A>C | GRCh37 |
| NC_000004.10:g.74499651A>C | NCBI36 |
| NG_009291.1:g.15816A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1094A>C MANE Select | ENSP00000295897.4:p.Tyr365Ser | |
| ENST00000295897.8:c.1094A>C | ENSP00000295897.4:p.Tyr365Ser | |
| ENST00000401494.7:c.749A>C | ENSP00000384695.3:p.Tyr250Ser | |
| ENST00000415165.6:c.518A>C | ENSP00000401820.2:p.Tyr173Ser | |
| ENST00000476441.6:c.*373A>C | ENSP00000423727.1:n.*373A>C | |
| ENST00000484992.1:n.414A>C | ||
| ENST00000503124.5:c.644A>C | ENSP00000421027.1:p.Tyr215Ser | |
| ENST00000504043.1:n.97A>C | ||
| ENST00000505649.5:n.780A>C | ||
| ENST00000509063.5:c.1094A>C | ENSP00000422784.1:p.Tyr365Ser | |
| ENST00000511370.1:c.627A>C | ||
| ENST00000621085.4:c.491-36A>C | ENSP00000483421.1:n.491-36A>C | |
| ENST00000621628.4:c.487-32A>C | ENSP00000480485.1:n.487-32A>C | |
| NM_000477.5:c.1094A>C | NP_000468.1:p.Tyr365Ser | |
| NM_000477.6:c.1094A>C | NP_000468.1:p.Tyr365Ser | |
| NM_000477.7:c.1094A>C MANE Select | NP_000468.1:p.Tyr365Ser |