Linked Data
ClinVar Variation Id:
2135597
ClinVar RCV Id:
RCV003048699
dbSNP Id:
rs17855115
gnomAD v4:
10-30313939-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313939A>G , CM000672.2:g.30313939A>G | GRCh38 |
| NC_000010.10:g.30602868A>G , CM000672.1:g.30602868A>G | GRCh37 |
| NC_000010.9:g.30642874A>G | NCBI36 |
| NG_028096.1:g.40400T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1419T>C MANE Select | ENSP00000263063.3:p.Pro473= | |
| ENST00000263063.8:c.1419T>C | ENSP00000263063.3:p.Pro473= | |
| ENST00000488290.5:n.3174T>C | ||
| NM_018109.3:c.1419T>C | NP_060579.3:p.Pro473= | |
| NM_018109.4:c.1419T>C MANE Select | NP_060579.3:p.Pro473= |