Linked Data
dbSNP Id:
rs370847691
ExAC:
4:995848 G / A
gnomAD v2:
4-995848-G-A
gnomAD v4:
4-1002060-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002060G>A , CM000666.2:g.1002060G>A | GRCh38 |
| NC_000004.11:g.995848G>A , CM000666.1:g.995848G>A | GRCh37 |
| NC_000004.10:g.985848G>A | NCBI36 |
| NG_008103.1:g.20064G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.871G>A | ENSP00000247933.4:p.Ala291Thr | |
| ENST00000514224.2:c.871G>A MANE Select | ENSP00000425081.2:p.Ala291Thr | |
| ENST00000652070.1:n.927G>A | ||
| ENST00000247933.8:c.871G>A | ENSP00000247933.4:p.Ala291Thr | |
| ENST00000514192.5:c.688G>A | ENSP00000423685.1:p.Ala230Thr | |
| ENST00000514224.1:c.475G>A | ENSP00000425081.1:p.Ala159Thr | |
| ENST00000514698.5:n.871G>A | ||
| NM_000203.4:c.871G>A | NP_000194.2:p.Ala291Thr | |
| NR_110313.1:n.959G>A | ||
| XM_006713882.2:c.475G>A | XP_006713945.1:p.Ala159Thr | |
| XM_011513459.1:c.830G>A | XP_011511761.1:p.Arg277His | |
| XM_011513460.1:c.730G>A | XP_011511762.1:p.Ala244Thr | |
| XM_011513461.1:c.664G>A | XP_011511763.1:p.Ala222Thr | |
| XM_011513462.1:c.583G>A | XP_011511764.1:p.Ala195Thr | |
| XM_011513463.1:c.583G>A | XP_011511765.1:p.Ala195Thr | |
| XR_924947.1:n.940G>A | ||
| NM_000203.5:c.871G>A MANE Select | NP_000194.2:p.Ala291Thr | |
| NM_001363576.1:c.475G>A | NP_001350505.1:p.Ala159Thr | |
| XM_011513461.2:c.664G>A | XP_011511763.1:p.Ala222Thr | |
| XM_017008163.1:c.-90G>A | XP_016863652.1:n.-90G>A |