Linked Data
ClinVar Variation Id:
736367
ClinVar RCV Id:
RCV000912006
dbSNP Id:
rs574433619
ExAC:
4:780386 G / A
gnomAD v2:
4-780386-G-A
gnomAD v3:
4-786598-G-A
gnomAD v4:
4-786598-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.786598G>A , CM000666.2:g.786598G>A | GRCh38 |
| NC_000004.11:g.780386G>A , CM000666.1:g.780386G>A | GRCh37 |
| NC_000004.10:g.770386G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304062.11:c.308C>T MANE Select | ENSP00000305613.6:p.Pro103Leu | |
| ENST00000304062.10:c.308C>T | ENSP00000305613.6:p.Pro103Leu | |
| ENST00000504062.1:c.263C>T | ENSP00000421947.1:p.Pro88Leu | |
| ENST00000505203.1:c.245C>T | ENSP00000425960.1:p.Pro82Leu | |
| ENST00000506404.1:n.361C>T | ||
| NM_006651.3:c.308C>T | NP_006642.1:p.Pro103Leu | |
| XM_011513391.1:c.263C>T | XP_011511693.1:p.Pro88Leu | |
| NM_006651.4:c.308C>T MANE Select | NP_006642.1:p.Pro103Leu |