Linked Data
ClinVar Variation Id:
92846
ClinVar RCV Id:
RCV000078642
RCV000283105
RCV000279604
RCV000319470
RCV000334759
RCV000374032
RCV000377358
RCV001511186
RCV001789003
RCV001789004
RCV003888416
dbSNP Id:
rs7764439
ExAC:
6:42689755 A / G
gnomAD v2:
6-42689755-A-G
gnomAD v3:
6-42722017-A-G
gnomAD v4:
6-42722017-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722017A>G , CM000668.2:g.42722017A>G | GRCh38 |
| NC_000006.11:g.42689755A>G , CM000668.1:g.42689755A>G | GRCh37 |
| NC_000006.10:g.42797733A>G | NCBI36 |
| NG_009176.1:g.5604T>C | |
| NG_009176.2:g.5604T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.318T>C MANE Select | ENSP00000230381.5:p.Val106= | |
| ENST00000230381.6:c.318T>C | ENSP00000230381.5:p.Val106= | |
| NM_000322.4:c.318T>C | NP_000313.2:p.Val106= | |
| XR_427834.2:n.973T>C | ||
| XR_926295.1:n.973T>C | ||
| XR_427834.4:n.1023T>C | ||
| XR_926295.3:n.1023T>C | ||
| NM_000322.5:c.318T>C MANE Select | NP_000313.2:p.Val106= |