Linked Data
ClinVar Variation Id:
1387546
ClinVar RCV Id:
RCV001908172
dbSNP Id:
rs756296074
ExAC:
6:42932546 C / A
gnomAD v2:
6-42932546-C-A
gnomAD v3:
6-42964808-C-A
gnomAD v4:
6-42964808-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42964808C>A , CM000668.2:g.42964808C>A | GRCh38 |
| NC_000006.11:g.42932546C>A , CM000668.1:g.42932546C>A | GRCh37 |
| NC_000006.10:g.43040524C>A | NCBI36 |
| NG_008370.1:g.19436G>T | |
| NG_008396.1:g.9047C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2788G>T MANE Select | ENSP00000303511.8:p.Val930Phe | |
| ENST00000244546.4:c.2541G>T | ENSP00000244546.4:n.2541G>T | |
| ENST00000304611.12:c.2788G>T | ENSP00000303511.8:p.Val930Phe | |
| NM_000287.3:c.2788G>T | NP_000278.3:p.Val930Phe | |
| NM_001316313.1:c.2524G>T | NP_001303242.1:p.Val842Phe | |
| NR_133009.1:n.2634G>T | ||
| XM_011514661.1:c.2704G>T | XP_011512963.1:p.Val902Phe | |
| XM_011514661.2:c.2704G>T | XP_011512963.1:p.Val902Phe | |
| XR_001743466.2:n.3750G>T | ||
| NM_000287.4:c.2788G>T MANE Select | NP_000278.3:p.Val930Phe | |
| NM_001316313.2:c.2524G>T | NP_001303242.1:p.Val842Phe | |
| NR_133009.2:n.2572G>T |