Linked Data
ClinVar Variation Id:
1541317
ClinVar RCV Id:
RCV002157399
dbSNP Id:
rs1271341173
gnomAD v4:
14-50118545-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118545G>C , CM000676.2:g.50118545G>C | GRCh38 |
| NC_000014.8:g.50585263G>C , CM000676.1:g.50585263G>C | GRCh37 |
| NC_000014.7:g.49655013G>C | NCBI36 |
| NG_051073.1:g.118149C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3798C>G MANE Select | ENSP00000216373.5:p.Pro1266= | |
| ENST00000216373.9:c.3798C>G | ENSP00000216373.5:p.Pro1266= | |
| ENST00000543680.5:c.3699C>G | ENSP00000445328.1:p.Pro1233= | |
| NM_006939.2:c.3798C>G | NP_008870.2:p.Pro1266= | |
| XM_005268021.1:c.3618C>G | XP_005268078.1:p.Pro1206= | |
| XM_011537103.1:c.3759C>G | XP_011535405.1:p.Pro1253= | |
| NM_006939.3:c.3798C>G | NP_008870.2:p.Pro1266= | |
| NM_006939.4:c.3798C>G MANE Select | NP_008870.2:p.Pro1266= |