Linked Data
ClinVar Variation Id:
1495144
ClinVar RCV Id:
RCV001999153
dbSNP Id:
rs186421933
gnomAD v2:
16-88503858-C-G
gnomAD v4:
16-88437450-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88437450C>G , CM000678.2:g.88437450C>G | GRCh38 |
| NC_000016.9:g.88503858C>G , CM000678.1:g.88503858C>G | GRCh37 |
| NC_000016.8:g.87031359C>G | NCBI36 |
| NG_012236.2:g.14980C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565624.3:c.9980C>G MANE Select | ENSP00000456500.2:p.Pro3327Arg | |
| ENST00000437464.1:c.9896C>G | ENSP00000402343.1:p.Pro3299Arg | |
| ENST00000565624.1:c.9980C>G | ENSP00000456500.1:p.Pro3327Arg | |
| NM_001127464.2:c.9896C>G | NP_001120936.2:p.Pro3299Arg | |
| XM_011523386.1:c.9980C>G | XP_011521688.1:p.Pro3327Arg | |
| XM_011523387.1:c.9980C>G | XP_011521689.1:p.Pro3327Arg | |
| XM_011523388.1:c.9980C>G | XP_011521690.1:p.Pro3327Arg | |
| XM_017023784.1:c.9980C>G | XP_016879273.1:p.Pro3327Arg | |
| XM_017023785.1:c.9980C>G | XP_016879274.1:p.Pro3327Arg | |
| NM_001367624.1:c.9980C>G | NP_001354553.1:p.Pro3327Arg | |
| NM_001367624.2:c.9980C>G MANE Select | NP_001354553.1:p.Pro3327Arg |