Linked Data
ClinVar Variation Id:
653344
ClinVar RCV Id:
RCV000809100
dbSNP Id:
rs1377173037
gnomAD v4:
9-92718858-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92718858C>A , CM000671.2:g.92718858C>A | GRCh38 |
| NC_000009.11:g.95481140C>A , CM000671.1:g.95481140C>A | GRCh37 |
| NC_000009.10:g.94520961C>A | NCBI36 |
| NG_033908.1:g.50944G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1787G>T MANE Select | ENSP00000349351.6:p.Gly596Val | |
| ENST00000356884.10:c.1787G>T | ENSP00000349351.6:p.Gly596Val | |
| ENST00000375512.3:c.1787G>T | ENSP00000364662.3:p.Gly596Val | |
| NM_001003800.1:c.1787G>T | NP_001003800.1:p.Gly596Val | |
| NM_015250.3:c.1787G>T | NP_056065.1:p.Gly596Val | |
| XM_017014551.1:c.1868G>T | XP_016870040.1:p.Gly623Val | |
| NM_001003800.2:c.1787G>T MANE Select | NP_001003800.1:p.Gly596Val | |
| NM_015250.4:c.1787G>T | NP_056065.1:p.Gly596Val |