Linked Data
ClinVar Variation Id:
333561
ClinVar RCV Id:
RCV000351259
dbSNP Id:
rs763452347
ExAC:
2:202494015 C / T
gnomAD v2:
2-202494015-C-T
gnomAD v3:
2-201629292-C-T
gnomAD v4:
2-201629292-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201629292C>T , CM000664.2:g.201629292C>T | GRCh38 |
| NC_000002.11:g.202494015C>T , CM000664.1:g.202494015C>T | GRCh37 |
| NC_000002.10:g.202202260C>T | NCBI36 |
| NG_032049.1:g.19238G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.697G>A | ||
| ENST00000621467.5:c.681G>A | ENSP00000480508.2:p.Ala227= | |
| ENST00000686475.1:n.747G>A | ||
| ENST00000409883.7:c.807G>A MANE Select | ENSP00000386264.2:p.Ala269= | |
| ENST00000286196.9:c.*371G>A | ENSP00000286196.5:n.*371G>A | |
| ENST00000409444.6:c.783G>A | ENSP00000387203.2:p.Ala261= | |
| ENST00000409883.6:c.807G>A | ENSP00000386264.2:p.Ala269= | |
| ENST00000432684.6:c.*606G>A | ENSP00000413230.2:n.*606G>A | |
| ENST00000466641.5:n.505G>A | ||
| ENST00000466839.5:n.675G>A | ||
| ENST00000471318.5:n.129G>A | ||
| ENST00000621467.4:c.783G>A | ENSP00000480508.1:p.Ala261= | |
| NM_001044385.2:c.807G>A | NP_001037850.1:p.Ala269= | |
| NM_152388.3:c.783G>A | NP_689601.2:p.Ala261= | |
| NM_001044385.3:c.807G>A MANE Select | NP_001037850.1:p.Ala269= | |
| NM_152388.4:c.783G>A | NP_689601.2:p.Ala261= |