Linked Data
dbSNP Id:
rs115686725
ExAC:
10:50669563 T / C
gnomAD v2:
10-50669563-T-C
gnomAD v3:
10-49461517-T-C
gnomAD v4:
10-49461517-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461517T>C , CM000672.2:g.49461517T>C | GRCh38 |
| NC_000010.10:g.50669563T>C , CM000672.1:g.50669563T>C | GRCh37 |
| NC_000010.9:g.50339569T>C | NCBI36 |
| NG_009442.1:g.82585A>G , LRG_465:g.82585A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3818A>G MANE Select | ENSP00000348089.5:p.Asp1273Gly | |
| ENST00000679552.1:n.889A>G | ||
| ENST00000679871.1:n.964A>G | ||
| ENST00000679974.1:n.867A>G | ||
| ENST00000681632.1:n.5221A>G | ||
| ENST00000681659.1:c.3659A>G | ENSP00000505631.1:p.Asp1220Gly | |
| ENST00000355832.9:c.3818A>G | ENSP00000348089.5:p.Asp1273Gly | |
| ENST00000465653.1:n.140A>G | ||
| ENST00000623073.3:c.*2114A>G | ENSP00000485650.1:n.*2114A>G | |
| ENST00000623115.3:c.1928A>G | ENSP00000485321.1:p.Asp643Gly | |
| ENST00000624341.3:c.1650A>G | ||
| NM_000124.3:c.3818A>G | NP_000115.1:p.Asp1273Gly | |
| XR_945953.1:n.243-10048T>C | ||
| NM_001346440.1:c.3818A>G | NP_001333369.1:p.Asp1273Gly | |
| NM_000124.4:c.3818A>G MANE Select | NP_000115.1:p.Asp1273Gly | |
| NM_001346440.2:c.3818A>G | NP_001333369.1:p.Asp1273Gly |