Linked Data
ClinVar Variation Id:
2162894
dbSNP Id:
rs374699130
gnomAD v2:
4-995932-G-A
gnomAD v4:
4-1002144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002144G>A , CM000666.2:g.1002144G>A | GRCh38 |
| NC_000004.11:g.995932G>A , CM000666.1:g.995932G>A | GRCh37 |
| NC_000004.10:g.985932G>A | NCBI36 |
| NG_008103.1:g.20148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.955G>A | ENSP00000247933.4:p.Ala319Thr | |
| ENST00000514224.2:c.955G>A MANE Select | ENSP00000425081.2:p.Ala319Thr | |
| ENST00000652070.1:n.1011G>A | ||
| ENST00000247933.8:c.955G>A | ENSP00000247933.4:p.Ala319Thr | |
| ENST00000514224.1:c.559G>A | ENSP00000425081.1:p.Ala187Thr | |
| ENST00000514698.5:n.955G>A | ||
| NM_000203.4:c.955G>A | NP_000194.2:p.Ala319Thr | |
| NR_110313.1:n.1043G>A | ||
| XM_006713882.2:c.559G>A | XP_006713945.1:p.Ala187Thr | |
| XM_011513459.1:c.914G>A | XP_011511761.1:p.Arg305His | |
| XM_011513460.1:c.814G>A | XP_011511762.1:p.Ala272Thr | |
| XM_011513461.1:c.748G>A | XP_011511763.1:p.Ala250Thr | |
| XM_011513462.1:c.667G>A | XP_011511764.1:p.Ala223Thr | |
| XM_011513463.1:c.667G>A | XP_011511765.1:p.Ala223Thr | |
| XR_924947.1:n.1024G>A | ||
| NM_000203.5:c.955G>A MANE Select | NP_000194.2:p.Ala319Thr | |
| NM_001363576.1:c.559G>A | NP_001350505.1:p.Ala187Thr | |
| XM_011513461.2:c.748G>A | XP_011511763.1:p.Ala250Thr | |
| XM_017008163.1:c.-6G>A | XP_016863652.1:n.-6G>A |