Linked Data
ClinVar Variation Id:
435107
ClinVar RCV Id:
RCV000501529
dbSNP Id:
rs1031711630
gnomAD v2:
6-159188539-T-C
gnomAD v4:
6-158767507-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158767507T>C , CM000668.2:g.158767507T>C | GRCh38 |
| NC_000006.11:g.159188539T>C , CM000668.1:g.159188539T>C | GRCh37 |
| NC_000006.10:g.159108527T>C | NCBI36 |
| NG_052952.1:g.56918A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367075.4:c.1350A>G MANE Select | ENSP00000356042.3:p.Lys450= | |
| ENST00000337147.11:c.1350A>G | ENSP00000338934.7:p.Lys450= | |
| ENST00000367075.3:c.1350A>G | ENSP00000356042.3:p.Lys450= | |
| ENST00000392177.8:c.1350A>G | ENSP00000376016.5:p.Lys450= | |
| NM_001111077.1:c.1350A>G | NP_001104547.1:p.Lys450= | |
| NM_003379.4:c.1350A>G | NP_003370.2:p.Lys450= | |
| XM_011536110.1:c.942A>G | XP_011534412.1:p.Lys314= | |
| NM_001111077.2:c.1350A>G MANE Select | NP_001104547.1:p.Lys450= | |
| NM_003379.5:c.1350A>G | NP_003370.2:p.Lys450= |