Linked Data
ClinVar Variation Id:
138905
ClinVar RCV Id:
RCV000153780
RCV000277056
RCV000273176
RCV000382760
RCV000332083
RCV000367746
RCV000328116
RCV001511184
RCV001789197
RCV001789198
RCV003114279
RCV003888535
dbSNP Id:
rs425876
ExAC:
6:42666145 C / T
gnomAD v2:
6-42666145-C-T
gnomAD v3:
6-42698407-C-T
gnomAD v4:
6-42698407-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42698407C>T , CM000668.2:g.42698407C>T | GRCh38 |
| NC_000006.11:g.42666145C>T , CM000668.1:g.42666145C>T | GRCh37 |
| NC_000006.10:g.42774123C>T | NCBI36 |
| NG_009176.1:g.29214G>A | |
| NG_009176.2:g.29214G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.929G>A MANE Select | ENSP00000230381.5:p.Arg310Lys | |
| ENST00000230381.6:c.929G>A | ENSP00000230381.5:p.Arg310Lys | |
| NM_000322.4:c.929G>A | NP_000313.2:p.Arg310Lys | |
| XR_926295.3:n.1816G>A | ||
| NM_000322.5:c.929G>A MANE Select | NP_000313.2:p.Arg310Lys |