Linked Data
dbSNP Id:
rs281860481
ExAC:
6:31239024 C / T
gnomAD v2:
6-31239024-C-T
gnomAD v3:
6-31271247-C-T
gnomAD v4:
6-31271247-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271247C>T , CM000668.2:g.31271247C>T | GRCh38 |
| NC_000006.11:g.31239024C>T , CM000668.1:g.31239024C>T | GRCh37 |
| NC_000006.10:g.31347003C>T | NCBI36 |
| NG_029422.2:g.5885G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.445G>A MANE Select | ENSP00000365402.5:p.Ala149Thr | |
| ENST00000376228.9:c.445G>A | ENSP00000365402.5:p.Ala149Thr | |
| ENST00000376237.8:c.*32G>A | ENSP00000365412.4:n.*32G>A | |
| ENST00000383329.7:c.445G>A | ENSP00000372819.3:p.Ala149Thr | |
| ENST00000415537.1:c.443G>A | ||
| ENST00000484378.1:n.714G>A | ||
| ENST00000487245.5:n.804G>A | ||
| ENST00000495835.1:n.634G>A | ||
| NM_002117.5:c.445G>A | NP_002108.4:p.Ala149Thr | |
| NM_002117.6:c.445G>A MANE Select | NP_002108.4:p.Ala149Thr |