Linked Data
ClinVar Variation Id:
92785
ClinVar RCV Id:
RCV000078572
RCV000364141
RCV000676092
RCV001510502
RCV001543732
RCV001543733
RCV001276613
dbSNP Id:
rs2274515
ExAC:
6:42933526 C / T
gnomAD v2:
6-42933526-C-T
gnomAD v3:
6-42965788-C-T
gnomAD v4:
6-42965788-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42965788C>T , CM000668.2:g.42965788C>T | GRCh38 |
| NC_000006.11:g.42933526C>T , CM000668.1:g.42933526C>T | GRCh37 |
| NC_000006.10:g.43041504C>T | NCBI36 |
| NG_008370.1:g.18456G>A | |
| NG_008396.1:g.10027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2364G>A MANE Select | ENSP00000303511.8:p.Val788= | |
| ENST00000244546.4:c.2117G>A | ENSP00000244546.4:p.Cys706Tyr | |
| ENST00000304611.12:c.2364G>A | ENSP00000303511.8:p.Val788= | |
| NM_000287.3:c.2364G>A | NP_000278.3:p.Val788= | |
| NM_001316313.1:c.2100G>A | NP_001303242.1:p.Val700= | |
| NR_133009.1:n.2210G>A | ||
| XM_011514661.1:c.2280G>A | XP_011512963.1:p.Val760= | |
| XM_011514661.2:c.2280G>A | XP_011512963.1:p.Val760= | |
| XR_001743466.2:n.3326G>A | ||
| NM_000287.4:c.2364G>A MANE Select | NP_000278.3:p.Val788= | |
| NM_001316313.2:c.2100G>A | NP_001303242.1:p.Val700= | |
| NR_133009.2:n.2148G>A |