Linked Data
ClinVar Variation Id:
619931
ClinVar RCV Id:
RCV000760114
dbSNP Id:
rs1241627827
gnomAD v3:
12-6057948-G-T
gnomAD v4:
12-6057948-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6057948G>T , CM000674.2:g.6057948G>T | GRCh38 |
| NC_000012.11:g.6167114G>T , CM000674.1:g.6167114G>T | GRCh37 |
| NC_000012.10:g.6037375G>T | NCBI36 |
| NG_009072.1:g.71723C>A | |
| NG_009072.2:g.71723C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1630C>A MANE Select | ENSP00000261405.5:p.Pro544Thr | |
| ENST00000261405.9:c.1630C>A | ENSP00000261405.5:p.Pro544Thr | |
| ENST00000538635.5:n.420+52567C>A | ||
| NM_000552.3:c.1630C>A | NP_000543.2:p.Pro544Thr | |
| NM_000552.4:c.1630C>A | NP_000543.2:p.Pro544Thr | |
| NM_000552.5:c.1630C>A MANE Select | NP_000543.3:p.Pro544Thr |