Linked Data
ClinVar Variation Id:
410967
dbSNP Id:
rs1060503097
gnomAD v2:
5-172659723-G-A
gnomAD v4:
5-173232720-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232720G>A , CM000667.2:g.173232720G>A | GRCh38 |
| NC_000005.9:g.172659723G>A , CM000667.1:g.172659723G>A | GRCh37 |
| NC_000005.8:g.172592329G>A | NCBI36 |
| NG_013340.1:g.7593C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.824C>T MANE Select | ENSP00000327758.4:p.Pro275Leu | |
| ENST00000329198.4:c.824C>T | ENSP00000327758.4:p.Pro275Leu | |
| NM_001166175.1:c.*777C>T | NP_001159647.1:n.*777C>T | |
| NM_001166176.1:c.*623C>T | NP_001159648.1:n.*623C>T | |
| NM_004387.3:c.824C>T | NP_004378.1:p.Pro275Leu | |
| NM_004387.4:c.824C>T MANE Select | NP_004378.1:p.Pro275Leu | |
| NM_001166175.2:c.*777C>T | NP_001159647.1:n.*777C>T | |
| NM_001166176.2:c.*623C>T | NP_001159648.1:n.*623C>T |