Linked Data
dbSNP Id:
rs1300774334
gnomAD v2:
10-50667279-T-G
gnomAD v3:
10-49459233-T-G
gnomAD v4:
10-49459233-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49459233T>G , CM000672.2:g.49459233T>G | GRCh38 |
| NC_000010.10:g.50667279T>G , CM000672.1:g.50667279T>G | GRCh37 |
| NC_000010.9:g.50337285T>G | NCBI36 |
| NG_009442.1:g.84869A>C , LRG_465:g.84869A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.4064A>C MANE Select | ENSP00000348089.5:p.Asp1355Ala | |
| ENST00000679552.1:n.2273A>C | ||
| ENST00000679871.1:n.1210A>C | ||
| ENST00000679974.1:n.1113A>C | ||
| ENST00000681632.1:n.5467A>C | ||
| ENST00000681659.1:c.3905A>C | ENSP00000505631.1:p.Asp1302Ala | |
| ENST00000355832.9:c.4064A>C | ENSP00000348089.5:p.Asp1355Ala | |
| ENST00000623073.3:c.*2360A>C | ENSP00000485650.1:n.*2360A>C | |
| ENST00000623115.3:c.2174A>C | ENSP00000485321.1:p.Asp725Ala | |
| ENST00000624341.3:c.1896A>C | ||
| NM_000124.3:c.4064A>C | NP_000115.1:p.Asp1355Ala | |
| XR_945953.1:n.243-12332T>G | ||
| NM_001346440.1:c.4064A>C | NP_001333369.1:p.Asp1355Ala | |
| NM_000124.4:c.4064A>C MANE Select | NP_000115.1:p.Asp1355Ala | |
| NM_001346440.2:c.4064A>C | NP_001333369.1:p.Asp1355Ala |