Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99844454A>C , CM000672.2:g.99844454A>C | GRCh38 |
| NC_000010.10:g.101604211A>C , CM000672.1:g.101604211A>C | GRCh37 |
| NC_000010.9:g.101594201A>C | NCBI36 |
| NG_011798.1:g.66749A>C | |
| NG_011798.2:g.66857A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.3976A>C MANE Select | ENSP00000497274.1:p.Ser1326Arg | |
| ENST00000649459.1:n.324A>C | ||
| ENST00000370449.8:c.3976A>C | ENSP00000359478.4:p.Ser1326Arg | |
| NM_000392.4:c.3976A>C | NP_000383.1:p.Ser1326Arg | |
| XM_006717630.2:c.3280A>C | XP_006717693.1:p.Ser1094Arg | |
| XR_945604.1:n.4165A>C | ||
| XR_945605.1:n.4040A>C | ||
| NM_000392.5:c.3976A>C MANE Select | NP_000383.2:p.Ser1326Arg | |
| XM_006717630.3:c.3280A>C | XP_006717693.1:p.Ser1094Arg | |
| XR_945604.3:n.4219A>C | ||
| XR_945605.3:n.4092A>C |