Linked Data
ClinVar Variation Id:
1582
dbSNP Id:
rs35703638
ExAC:
5:110441839 G / A
gnomAD v2:
5-110441839-G-A
gnomAD v3:
5-111106140-G-A
gnomAD v4:
5-111106140-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111106140G>A , CM000667.2:g.111106140G>A | GRCh38 |
| NC_000005.9:g.110441839G>A , CM000667.1:g.110441839G>A | GRCh37 |
| NC_000005.8:g.110469738G>A | NCBI36 |
| NG_008979.1:g.18970G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000513710.4:c.1177G>A MANE Select | ENSP00000424628.3:p.Ala393Thr | |
| ENST00000505303.5:n.1313G>A | ||
| ENST00000506538.6:c.1345G>A | ENSP00000423067.2:p.Ala449Thr | |
| ENST00000513710.3:c.1177G>A | ENSP00000424628.3:p.Ala393Thr | |
| ENST00000612402.4:c.1345G>A | ENSP00000479950.1:p.Ala449Thr | |
| NM_139281.2:c.1345G>A | NP_644810.1:p.Ala449Thr | |
| XM_011543163.1:c.1345G>A | XP_011541465.1:p.Ala449Thr | |
| NM_139281.3:c.1177G>A MANE Select | NP_644810.2:p.Ala393Thr |