Linked Data
dbSNP Id:
rs772094804
ExAC:
10:50678908 T / C
gnomAD v2:
10-50678908-T-C
gnomAD v4:
10-49470862-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470862T>C , CM000672.2:g.49470862T>C | GRCh38 |
| NC_000010.10:g.50678908T>C , CM000672.1:g.50678908T>C | GRCh37 |
| NC_000010.9:g.50348914T>C | NCBI36 |
| NG_009442.1:g.73240A>G , LRG_465:g.73240A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3098A>G MANE Select | ENSP00000348089.5:p.Lys1033Arg | |
| ENST00000679552.1:n.169A>G | ||
| ENST00000679871.1:n.244A>G | ||
| ENST00000679974.1:n.147A>G | ||
| ENST00000681632.1:n.4501A>G | ||
| ENST00000681659.1:c.2939A>G | ENSP00000505631.1:p.Lys980Arg | |
| ENST00000355832.9:c.3098A>G | ENSP00000348089.5:p.Lys1033Arg | |
| ENST00000623073.3:c.*1394A>G | ENSP00000485650.1:n.*1394A>G | |
| ENST00000623115.3:c.1208A>G | ENSP00000485321.1:p.Lys403Arg | |
| ENST00000624341.3:c.930A>G | ||
| NM_000124.3:c.3098A>G | NP_000115.1:p.Lys1033Arg | |
| XR_945953.1:n.243-703T>C | ||
| NM_001346440.1:c.3098A>G | NP_001333369.1:p.Lys1033Arg | |
| NM_000124.4:c.3098A>G MANE Select | NP_000115.1:p.Lys1033Arg | |
| NM_001346440.2:c.3098A>G | NP_001333369.1:p.Lys1033Arg |