Linked Data
ClinVar Variation Id:
356776
ClinVar RCV Id:
RCV000290210
RCV000305394
RCV000341580
RCV000345147
RCV000376706
RCV000407997
RCV001424704
dbSNP Id:
rs752365478
ExAC:
6:42666066 G / A
gnomAD v2:
6-42666066-G-A
gnomAD v3:
6-42698328-G-A
gnomAD v4:
6-42698328-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42698328G>A , CM000668.2:g.42698328G>A | GRCh38 |
| NC_000006.11:g.42666066G>A , CM000668.1:g.42666066G>A | GRCh37 |
| NC_000006.10:g.42774044G>A | NCBI36 |
| NG_009176.1:g.29293C>T | |
| NG_009176.2:g.29293C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.1008C>T MANE Select | ENSP00000230381.5:p.Gly336= | |
| ENST00000230381.6:c.1008C>T | ENSP00000230381.5:p.Gly336= | |
| NM_000322.4:c.1008C>T | NP_000313.2:p.Gly336= | |
| XR_926295.3:n.1895C>T | ||
| NM_000322.5:c.1008C>T MANE Select | NP_000313.2:p.Gly336= |