Linked Data
ClinVar Variation Id:
2069940
ClinVar RCV Id:
RCV002966753
dbSNP Id:
rs778428028
gnomAD v2:
4-780314-G-T
gnomAD v4:
4-786526-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.786526G>T , CM000666.2:g.786526G>T | GRCh38 |
| NC_000004.11:g.780314G>T , CM000666.1:g.780314G>T | GRCh37 |
| NC_000004.10:g.770314G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304062.11:c.380C>A MANE Select | ENSP00000305613.6:p.Pro127Gln | |
| ENST00000304062.10:c.380C>A | ENSP00000305613.6:p.Pro127Gln | |
| ENST00000505203.1:c.317C>A | ENSP00000425960.1:p.Pro106Gln | |
| ENST00000506404.1:n.433C>A | ||
| NM_006651.3:c.380C>A | NP_006642.1:p.Pro127Gln | |
| XM_011513391.1:c.335C>A | XP_011511693.1:p.Pro112Gln | |
| NM_006651.4:c.380C>A MANE Select | NP_006642.1:p.Pro127Gln |