Linked Data
dbSNP Id:
rs769374421
ExAC:
4:74283849 G / A
gnomAD v2:
4-74283849-G-A
gnomAD v4:
4-73418132-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73418132G>A , CM000666.2:g.73418132G>A | GRCh38 |
| NC_000004.11:g.74283849G>A , CM000666.1:g.74283849G>A | GRCh37 |
| NC_000004.10:g.74502713G>A | NCBI36 |
| NG_009291.1:g.18878G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1473G>A MANE Select | ENSP00000295897.4:p.Thr491= | |
| ENST00000295897.8:c.1473G>A | ENSP00000295897.4:p.Thr491= | |
| ENST00000401494.7:c.1128G>A | ENSP00000384695.3:p.Thr376= | |
| ENST00000415165.6:c.897G>A | ENSP00000401820.2:p.Thr299= | |
| ENST00000476441.6:c.*752G>A | ENSP00000423727.1:n.*752G>A | |
| ENST00000486939.1:n.127G>A | ||
| ENST00000503124.5:c.1023G>A | ENSP00000421027.1:p.Thr341= | |
| ENST00000505649.5:n.1020G>A | ||
| ENST00000509063.5:c.1473G>A | ENSP00000422784.1:p.Thr491= | |
| ENST00000511370.1:c.1006G>A | ||
| ENST00000621085.4:c.834G>A | ENSP00000483421.1:p.Thr278= | |
| ENST00000621628.4:c.834G>A | ENSP00000480485.1:p.Thr278= | |
| NM_000477.5:c.1473G>A | NP_000468.1:p.Thr491= | |
| NM_000477.6:c.1473G>A | NP_000468.1:p.Thr491= | |
| NM_000477.7:c.1473G>A MANE Select | NP_000468.1:p.Thr491= |