Linked Data
ClinVar Variation Id:
2101438
ClinVar RCV Id:
RCV003033746
dbSNP Id:
rs747987442
ExAC:
6:42689925 C / T
gnomAD v2:
6-42689925-C-T
gnomAD v4:
6-42722187-C-T
COSMIC:
COSM369351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722187C>T , CM000668.2:g.42722187C>T | GRCh38 |
| NC_000006.11:g.42689925C>T , CM000668.1:g.42689925C>T | GRCh37 |
| NC_000006.10:g.42797903C>T | NCBI36 |
| NG_009176.1:g.5434G>A | |
| NG_009176.2:g.5434G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.148G>A MANE Select | ENSP00000230381.5:p.Asp50Asn | |
| ENST00000230381.6:c.148G>A | ENSP00000230381.5:p.Asp50Asn | |
| NM_000322.4:c.148G>A | NP_000313.2:p.Asp50Asn | |
| XR_427834.2:n.803G>A | ||
| XR_926295.1:n.803G>A | ||
| XR_427834.4:n.853G>A | ||
| XR_926295.3:n.853G>A | ||
| NM_000322.5:c.148G>A MANE Select | NP_000313.2:p.Asp50Asn |