Linked Data
ClinVar Variation Id:
349665
dbSNP Id:
rs200123398
ExAC:
4:79186242 G / A
gnomAD v2:
4-79186242-G-A
gnomAD v3:
4-78265088-G-A
gnomAD v4:
4-78265088-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78265088G>A , CM000666.2:g.78265088G>A | GRCh38 |
| NC_000004.11:g.79186242G>A , CM000666.1:g.79186242G>A | GRCh37 |
| NC_000004.10:g.79405266G>A | NCBI36 |
| NG_015812.1:g.212519G>A | |
| NG_015812.2:g.212519G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325942.11:c.667G>A | ENSP00000326330.6:p.Ala223Thr | |
| ENST00000502446.6:c.667G>A | ENSP00000423645.2:p.Ala223Thr | |
| ENST00000508900.2:c.667G>A | ENSP00000423809.2:p.Ala223Thr | |
| ENST00000682513.1:c.667G>A | ENSP00000508201.1:p.Ala223Thr | |
| ENST00000683711.1:n.987G>A | ||
| ENST00000684159.1:c.667G>A | ENSP00000506875.1:p.Ala223Thr | |
| ENST00000512123.4:c.667G>A MANE Select | ENSP00000422834.2:p.Ala223Thr | |
| ENST00000264899.10:c.667G>A | ENSP00000264899.7:p.Ala223Thr | |
| ENST00000325942.10:c.667G>A | ENSP00000326330.6:p.Ala223Thr | |
| ENST00000502446.5:c.453G>A | ||
| ENST00000508900.1:c.194G>A | ||
| ENST00000512123.3:c.667G>A | ENSP00000422834.2:p.Ala223Thr | |
| NM_001166133.1:c.667G>A | NP_001159605.1:p.Ala223Thr | |
| NM_025074.6:c.667G>A | NP_079350.5:p.Ala223Thr | |
| XM_006714314.1:c.667G>A | XP_006714377.1:p.Ala223Thr | |
| XM_006714316.1:c.667G>A | XP_006714379.1:p.Ala223Thr | |
| XM_006714316.3:c.667G>A | XP_006714379.1:p.Ala223Thr | |
| NM_025074.7:c.667G>A MANE Select | NP_079350.5:p.Ala223Thr | |
| NM_001166133.2:c.667G>A | NP_001159605.1:p.Ala223Thr |