Linked Data
ClinVar Variation Id:
2921234
ClinVar RCV Id:
RCV003740640
dbSNP Id:
rs1944791326
gnomAD v4:
12-6072392-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6072392A>G , CM000674.2:g.6072392A>G | GRCh38 |
| NC_000012.11:g.6181558A>G , CM000674.1:g.6181558A>G | GRCh37 |
| NC_000012.10:g.6051819A>G | NCBI36 |
| NG_009072.1:g.57279T>C | |
| NG_009072.2:g.57279T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1048T>C MANE Select | ENSP00000261405.5:p.Cys350Arg | |
| ENST00000261405.9:c.1048T>C | ENSP00000261405.5:p.Cys350Arg | |
| ENST00000538635.5:n.420+38123T>C | ||
| NM_000552.3:c.1048T>C | NP_000543.2:p.Cys350Arg | |
| NM_000552.4:c.1048T>C | NP_000543.2:p.Cys350Arg | |
| NM_000552.5:c.1048T>C MANE Select | NP_000543.3:p.Cys350Arg |