Linked Data
ClinVar Variation Id:
356778
ClinVar RCV Id:
RCV000295006
RCV000309085
RCV000349955
RCV000363735
RCV000406712
RCV000406713
RCV002058610
RCV003888843
dbSNP Id:
rs200009675
ExAC:
6:42689761 G / A
gnomAD v2:
6-42689761-G-A
gnomAD v3:
6-42722023-G-A
gnomAD v4:
6-42722023-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722023G>A , CM000668.2:g.42722023G>A | GRCh38 |
| NC_000006.11:g.42689761G>A , CM000668.1:g.42689761G>A | GRCh37 |
| NC_000006.10:g.42797739G>A | NCBI36 |
| NG_009176.1:g.5598C>T | |
| NG_009176.2:g.5598C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.312C>T MANE Select | ENSP00000230381.5:p.Ile104= | |
| ENST00000230381.6:c.312C>T | ENSP00000230381.5:p.Ile104= | |
| NM_000322.4:c.312C>T | NP_000313.2:p.Ile104= | |
| XR_427834.2:n.967C>T | ||
| XR_926295.1:n.967C>T | ||
| XR_427834.4:n.1017C>T | ||
| XR_926295.3:n.1017C>T | ||
| NM_000322.5:c.312C>T MANE Select | NP_000313.2:p.Ile104= |