Linked Data
ClinVar Variation Id:
320990
dbSNP Id:
rs138771545
ExAC:
16:88502503 G / A
gnomAD v2:
16-88502503-G-A
gnomAD v3:
16-88436095-G-A
gnomAD v4:
16-88436095-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88436095G>A , CM000678.2:g.88436095G>A | GRCh38 |
| NC_000016.9:g.88502503G>A , CM000678.1:g.88502503G>A | GRCh37 |
| NC_000016.8:g.87030004G>A | NCBI36 |
| NG_012236.2:g.13625G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565624.3:c.8625G>A MANE Select | ENSP00000456500.2:p.Pro2875= | |
| ENST00000437464.1:c.8541G>A | ENSP00000402343.1:p.Pro2847= | |
| ENST00000565624.1:c.8625G>A | ENSP00000456500.1:p.Pro2875= | |
| NM_001127464.2:c.8541G>A | NP_001120936.2:p.Pro2847= | |
| XM_011523386.1:c.8625G>A | XP_011521688.1:p.Pro2875= | |
| XM_011523387.1:c.8625G>A | XP_011521689.1:p.Pro2875= | |
| XM_011523388.1:c.8625G>A | XP_011521690.1:p.Pro2875= | |
| XM_017023784.1:c.8625G>A | XP_016879273.1:p.Pro2875= | |
| XM_017023785.1:c.8625G>A | XP_016879274.1:p.Pro2875= | |
| NM_001367624.1:c.8625G>A | NP_001354553.1:p.Pro2875= | |
| NM_001367624.2:c.8625G>A MANE Select | NP_001354553.1:p.Pro2875= |