Linked Data
ClinVar Variation Id:
1685071
ClinVar RCV Id:
RCV002248163
dbSNP Id:
rs754785148
gnomAD v4:
8-10612867-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612867G>A , CM000670.2:g.10612867G>A | GRCh38 |
| NC_000008.10:g.10470377G>A , CM000670.1:g.10470377G>A | GRCh37 |
| NC_000008.9:g.10507787G>A | NCBI36 |
| NG_028035.1:g.47241C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1231C>T MANE Select | ENSP00000371923.3:p.Pro411Ser | |
| ENST00000382483.3:c.1231C>T | ENSP00000371923.3:p.Pro411Ser | |
| NM_178857.5:c.1231C>T | NP_849188.4:p.Pro411Ser | |
| NM_178857.6:c.1231C>T MANE Select | NP_849188.4:p.Pro411Ser |