Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99844380A>G , CM000672.2:g.99844380A>G | GRCh38 |
| NC_000010.10:g.101604137A>G , CM000672.1:g.101604137A>G | GRCh37 |
| NC_000010.9:g.101594127A>G | NCBI36 |
| NG_011798.1:g.66675A>G | |
| NG_011798.2:g.66783A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3902A>G MANE Select | ENSP00000497274.1:p.Gln1301Arg | |
| ENST00000649459.1:n.250A>G | ||
| ENST00000370449.8:c.3902A>G | ENSP00000359478.4:p.Gln1301Arg | |
| NM_000392.4:c.3902A>G | NP_000383.1:p.Gln1301Arg | |
| XM_006717630.2:c.3206A>G | XP_006717693.1:p.Gln1069Arg | |
| XR_945604.1:n.4091A>G | ||
| XR_945605.1:n.3966A>G | ||
| NM_000392.5:c.3902A>G MANE Select | NP_000383.2:p.Gln1301Arg | |
| XM_006717630.3:c.3206A>G | XP_006717693.1:p.Gln1069Arg | |
| XR_945604.3:n.4145A>G | ||
| XR_945605.3:n.4018A>G |