Linked Data
ClinVar Variation Id:
229318
ClinVar RCV Id:
RCV000220237
dbSNP Id:
rs767285617
gnomAD v2:
9-75435896-C-G
gnomAD v4:
9-72820980-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820980C>G , CM000671.2:g.72820980C>G | GRCh38 |
| NC_000009.11:g.75435896C>G , CM000671.1:g.75435896C>G | GRCh37 |
| NC_000009.10:g.74625716C>G | NCBI36 |
| NG_008213.1:g.304180C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1902C>G MANE Select | ENSP00000297784.6:p.Asn634Lys | |
| ENST00000644967.1:c.*342C>G | ENSP00000496159.1:n.*342C>G | |
| ENST00000645053.1:c.1258-5889C>G | ENSP00000493838.1:n.1258-5889C>G | |
| ENST00000645208.2:c.1902C>G | ENSP00000494684.1:p.Asn634Lys | |
| ENST00000645773.1:c.1776C>G | ENSP00000493698.1:p.Asn592Lys | |
| ENST00000645787.1:n.2045C>G | ||
| ENST00000646619.1:c.1464C>G | ENSP00000493726.1:p.Asn488Lys | |
| ENST00000651183.1:c.1464C>G | ENSP00000498723.1:p.Asn488Lys | |
| ENST00000297784.9:c.1902C>G | ENSP00000297784.5:p.Asn634Lys | |
| ENST00000340019.4:c.1902C>G | ENSP00000341433.3:p.Asn634Lys | |
| ENST00000469455.1:n.383C>G | ||
| ENST00000486417.5:n.800C>G | ||
| NM_138691.2:c.1902C>G | NP_619636.2:p.Asn634Lys | |
| XM_011518213.1:c.2490C>G | XP_011516515.1:p.Asn830Lys | |
| XM_017014256.1:c.1905C>G | XP_016869745.1:p.Asn635Lys | |
| NM_138691.3:c.1902C>G MANE Select | NP_619636.2:p.Asn634Lys |