Linked Data
ClinVar Variation Id:
1963118
ClinVar RCV Id:
RCV002710927
dbSNP Id:
rs1206847512
gnomAD v2:
2-136574973-C-T
gnomAD v3:
2-135817403-C-T
gnomAD v4:
2-135817403-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135817403C>T , CM000664.2:g.135817403C>T | GRCh38 |
| NC_000002.11:g.136574973C>T , CM000664.1:g.136574973C>T | GRCh37 |
| NC_000002.10:g.136291443C>T | NCBI36 |
| NG_008104.2:g.42767G>A , LRG_338:g.42767G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.1645G>A MANE Select | ENSP00000264162.2:p.Ala549Thr | |
| ENST00000264162.6:c.1645G>A | ENSP00000264162.2:p.Ala549Thr | |
| NM_002299.2:c.1645G>A , LRG_338t1:c.1645G>A | NP_002290.2:p.Ala549Thr | |
| NM_002299.3:c.1645G>A | NP_002290.2:p.Ala549Thr | |
| XM_017004088.2:c.1645G>A | XP_016859577.1:p.Ala549Thr | |
| NM_002299.4:c.1645G>A MANE Select | NP_002290.2:p.Ala549Thr |