Linked Data
ClinVar Variation Id:
1155707
ClinVar RCV Id:
RCV001498134
dbSNP Id:
rs750237643
ExAC:
2:96930973 G / C
gnomAD v2:
2-96930973-G-C
gnomAD v4:
2-96265235-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96265235G>C , CM000664.2:g.96265235G>C | GRCh38 |
| NC_000002.11:g.96930973G>C , CM000664.1:g.96930973G>C | GRCh37 |
| NC_000002.10:g.96294700G>C | NCBI36 |
| NG_027695.1:g.5779C>G , LRG_528:g.5779C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.147C>G MANE Select | ENSP00000258439.3:p.Ala49= | |
| ENST00000258439.7:c.147C>G | ENSP00000258439.2:p.Ala49= | |
| ENST00000432959.1:c.147C>G | ENSP00000416660.1:p.Ala49= | |
| NM_001193304.2:c.147C>G | NP_001180233.1:p.Ala49= | |
| NM_017849.3:c.147C>G , LRG_528t1:c.147C>G | NP_060319.1:p.Ala49= | |
| NM_001193304.3:c.147C>G | NP_001180233.1:p.Ala49= | |
| NM_017849.4:c.147C>G MANE Select | NP_060319.1:p.Ala49= |