Linked Data
ClinVar Variation Id:
2856192
ClinVar RCV Id:
RCV003696317
gnomAD v4:
4-73418219-A-G
MyVariant Identifiers:
chr4:g.74283936A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73418219A>G , CM000666.2:g.73418219A>G | GRCh38 |
| NC_000004.11:g.74283936A>G , CM000666.1:g.74283936A>G | GRCh37 |
| NC_000004.10:g.74502800A>G | NCBI36 |
| NG_009291.1:g.18965A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1560A>G MANE Select | ENSP00000295897.4:p.Thr520= | |
| ENST00000295897.8:c.1560A>G | ENSP00000295897.4:p.Thr520= | |
| ENST00000401494.7:c.1215A>G | ENSP00000384695.3:p.Thr405= | |
| ENST00000415165.6:c.984A>G | ENSP00000401820.2:p.Thr328= | |
| ENST00000476441.6:c.*839A>G | ENSP00000423727.1:n.*839A>G | |
| ENST00000486939.1:n.214A>G | ||
| ENST00000503124.5:c.1110A>G | ENSP00000421027.1:p.Thr370= | |
| ENST00000505649.5:n.1107A>G | ||
| ENST00000509063.5:c.1560A>G | ENSP00000422784.1:p.Thr520= | |
| ENST00000511370.1:c.1093A>G | ||
| ENST00000621085.4:c.921A>G | ENSP00000483421.1:p.Thr307= | |
| ENST00000621628.4:c.921A>G | ENSP00000480485.1:p.Thr307= | |
| NM_000477.5:c.1560A>G | NP_000468.1:p.Thr520= | |
| NM_000477.6:c.1560A>G | NP_000468.1:p.Thr520= | |
| NM_000477.7:c.1560A>G MANE Select | NP_000468.1:p.Thr520= |