Linked Data
ClinVar Variation Id:
493199
ClinVar RCV Id:
RCV000585209
dbSNP Id:
rs1046436333
gnomAD v2:
16-88503551-G-A
gnomAD v3:
16-88437143-G-A
gnomAD v4:
16-88437143-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88437143G>A , CM000678.2:g.88437143G>A | GRCh38 |
| NC_000016.9:g.88503551G>A , CM000678.1:g.88503551G>A | GRCh37 |
| NC_000016.8:g.87031052G>A | NCBI36 |
| NG_012236.2:g.14673G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565624.3:c.9673G>A MANE Select | ENSP00000456500.2:p.Ala3225Thr | |
| ENST00000437464.1:c.9589G>A | ENSP00000402343.1:p.Ala3197Thr | |
| ENST00000565624.1:c.9673G>A | ENSP00000456500.1:p.Ala3225Thr | |
| NM_001127464.2:c.9589G>A | NP_001120936.2:p.Ala3197Thr | |
| XM_011523386.1:c.9673G>A | XP_011521688.1:p.Ala3225Thr | |
| XM_011523387.1:c.9673G>A | XP_011521689.1:p.Ala3225Thr | |
| XM_011523388.1:c.9673G>A | XP_011521690.1:p.Ala3225Thr | |
| XM_017023784.1:c.9673G>A | XP_016879273.1:p.Ala3225Thr | |
| XM_017023785.1:c.9673G>A | XP_016879274.1:p.Ala3225Thr | |
| NM_001367624.1:c.9673G>A | NP_001354553.1:p.Ala3225Thr | |
| NM_001367624.2:c.9673G>A MANE Select | NP_001354553.1:p.Ala3225Thr |