Linked Data
dbSNP Id:
rs1250275542
gnomAD v2:
1-101005627-G-A
gnomAD v3:
1-100540071-G-A
gnomAD v4:
1-100540071-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100540071G>A , CM000663.2:g.100540071G>A | GRCh38 |
| NC_000001.10:g.101005627G>A , CM000663.1:g.101005627G>A | GRCh37 |
| NC_000001.9:g.100778215G>A | NCBI36 |
| NG_053134.1:g.6900G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.1105G>A MANE Select | ENSP00000314223.4:p.Ala369Thr | |
| ENST00000315033.4:c.1105G>A | ENSP00000314223.4:p.Ala369Thr | |
| NM_022049.2:c.1105G>A | NP_071332.2:p.Ala369Thr | |
| NM_022049.3:c.1105G>A MANE Select | NP_071332.2:p.Ala369Thr |