Linked Data
dbSNP Id:
rs181030365
ExAC:
6:161162407 G / A
gnomAD v2:
6-161162407-G-A
gnomAD v3:
6-160741375-G-A
gnomAD v4:
6-160741375-G-A
COSMIC:
COSM3024037
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160741375G>A , CM000668.2:g.160741375G>A | GRCh38 |
| NC_000006.11:g.161162407G>A , CM000668.1:g.161162407G>A | GRCh37 |
| NC_000006.10:g.161082397G>A | NCBI36 |
| NG_016200.1:g.44183G>A , LRG_571:g.44183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297289.9:c.1036G>A | ENSP00000516619.1:p.Asp346Asn | |
| ENST00000418964.2:c.2134G>A | ENSP00000389424.2:p.Asp712Asn | |
| ENST00000706906.1:c.*2103G>A | ENSP00000516618.1:n.*2103G>A | |
| ENST00000308192.14:c.2083G>A MANE Select | ENSP00000308938.9:p.Asp695Asn | |
| ENST00000308192.13:c.2083G>A | ENSP00000308938.9:p.Asp695Asn | |
| ENST00000461414.2:n.99+7G>A | ||
| ENST00000467466.1:n.384G>A | ||
| NM_000301.3:c.2083G>A , LRG_571t1:c.2083G>A | NP_000292.1:p.Asp695Asn | |
| NM_000301.4:c.2083G>A | NP_000292.1:p.Asp695Asn | |
| NM_000301.5:c.2083G>A MANE Select | NP_000292.1:p.Asp695Asn |