Linked Data
ClinVar Variation Id:
432596
ClinVar RCV Id:
RCV000498566
dbSNP Id:
rs775421403
ExAC:
9:32550953 G / A
gnomAD v2:
9-32550953-G-A
gnomAD v3:
9-32550955-G-A
gnomAD v4:
9-32550955-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32550955G>A , CM000671.2:g.32550955G>A | GRCh38 |
| NC_000009.11:g.32550953G>A , CM000671.1:g.32550953G>A | GRCh37 |
| NC_000009.10:g.32540953G>A | NCBI36 |
| NG_017050.1:g.6670C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.17C>T MANE Select | ENSP00000353735.2:p.Pro6Leu | |
| ENST00000680198.1:c.17C>T | ENSP00000505143.1:p.Pro6Leu | |
| ENST00000681750.1:c.-226C>T | ENSP00000506413.1:n.-226C>T | |
| ENST00000360538.6:c.17C>T | ENSP00000353735.2:p.Pro6Leu | |
| ENST00000379858.1:c.3+1479C>T | ENSP00000369187.1:n.3+1479C>T | |
| NM_001195622.1:c.3+1479C>T | NP_001182551.1:n.3+1479C>T | |
| NM_005802.4:c.17C>T | NP_005793.2:p.Pro6Leu | |
| NM_005802.5:c.17C>T MANE Select | NP_005793.2:p.Pro6Leu | |
| NM_001195622.2:c.3+1479C>T | NP_001182551.1:n.3+1479C>T |