Linked Data
ClinVar Variation Id:
474276
ClinVar RCV Id:
RCV000525452
dbSNP Id:
rs760624844
ExAC:
9:95477468 A / G
gnomAD v2:
9-95477468-A-G
gnomAD v3:
9-92715186-A-G
gnomAD v4:
9-92715186-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92715186A>G , CM000671.2:g.92715186A>G | GRCh38 |
| NC_000009.11:g.95477468A>G , CM000671.1:g.95477468A>G | GRCh37 |
| NC_000009.10:g.94517289A>G | NCBI36 |
| NG_033908.1:g.54616T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.2536T>C MANE Select | ENSP00000349351.6:p.Cys846Arg | |
| ENST00000356884.10:c.2536T>C | ENSP00000349351.6:p.Cys846Arg | |
| ENST00000375512.3:c.2469+67T>C | ENSP00000364662.3:n.2469+67T>C | |
| NM_001003800.1:c.2536T>C | NP_001003800.1:p.Cys846Arg | |
| NM_015250.3:c.2469+67T>C | NP_056065.1:n.2469+67T>C | |
| XM_017014551.1:c.2550+67T>C | XP_016870040.1:n.2550+67T>C | |
| NM_001003800.2:c.2536T>C MANE Select | NP_001003800.1:p.Cys846Arg | |
| NM_015250.4:c.2469+67T>C | NP_056065.1:n.2469+67T>C |