Linked Data
ClinVar Variation Id:
238913
dbSNP Id:
rs138071140
ExAC:
7:21654812 A / G
gnomAD v2:
7-21654812-A-G
gnomAD v3:
7-21615194-A-G
gnomAD v4:
7-21615194-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21615194A>G , CM000669.2:g.21615194A>G | GRCh38 |
| NC_000007.13:g.21654812A>G , CM000669.1:g.21654812A>G | GRCh37 |
| NC_000007.12:g.21621337A>G | NCBI36 |
| NG_012886.2:g.76980A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.3933A>G MANE Select | ENSP00000475939.1:p.Pro1311= | |
| ENST00000328843.10:c.3933A>G | ENSP00000330671.7:p.Pro1311= | |
| ENST00000409508.7:c.3933A>G | ENSP00000475939.1:p.Pro1311= | |
| ENST00000620169.4:c.3933A>G | ENSP00000481693.1:p.Pro1311= | |
| NM_001277115.1:c.3933A>G | NP_001264044.1:p.Pro1311= | |
| NM_001277115.2:c.3933A>G MANE Select | NP_001264044.1:p.Pro1311= |