Linked Data
dbSNP Id:
rs766115481
ExAC:
4:74270120 G / A
gnomAD v2:
4-74270120-G-A
gnomAD v4:
4-73404403-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404403G>A , CM000666.2:g.73404403G>A | GRCh38 |
| NC_000004.11:g.74270120G>A , CM000666.1:g.74270120G>A | GRCh37 |
| NC_000004.10:g.74488984G>A | NCBI36 |
| NG_009291.1:g.5149G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.76G>A MANE Select | ENSP00000295897.4:p.Ala26Thr | |
| ENST00000295897.8:c.76G>A | ENSP00000295897.4:p.Ala26Thr | |
| ENST00000401494.7:c.76G>A | ENSP00000384695.3:p.Ala26Thr | |
| ENST00000415165.6:c.76G>A | ENSP00000401820.2:p.Ala26Thr | |
| ENST00000441319.5:c.82G>A | ENSP00000392541.1:p.Ala28Thr | |
| ENST00000476441.6:c.76G>A | ENSP00000423727.1:p.Ala26Thr | |
| ENST00000503124.5:c.-105G>A | ENSP00000421027.1:n.-105G>A | |
| ENST00000509063.5:c.76G>A | ENSP00000422784.1:p.Ala26Thr | |
| ENST00000510166.5:n.117G>A | ||
| ENST00000514786.1:n.48+67G>A | ||
| ENST00000515133.5:n.117G>A | ||
| ENST00000621085.4:c.76G>A | ENSP00000483421.1:p.Ala26Thr | |
| ENST00000621628.4:c.76G>A | ENSP00000480485.1:p.Ala26Thr | |
| NM_000477.5:c.76G>A | NP_000468.1:p.Ala26Thr | |
| NM_000477.6:c.76G>A | NP_000468.1:p.Ala26Thr | |
| NM_000477.7:c.76G>A MANE Select | NP_000468.1:p.Ala26Thr |