Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31861415C>G , CM000668.2:g.31861415C>G | GRCh38 |
| NC_000006.11:g.31829192C>G , CM000668.1:g.31829192C>G | GRCh37 |
| NC_000006.10:g.31937171C>G | NCBI36 |
| NG_008201.1:g.6518G>C | |
| NG_023058.1:g.22632G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.388G>C MANE Select | ENSP00000364782.4:p.Asp130His | |
| ENST00000677054.1:n.1065G>C | ||
| ENST00000677512.1:n.496G>C | ||
| ENST00000678869.1:n.496G>C | ||
| ENST00000375631.4:c.388G>C | ENSP00000364782.4:p.Asp130His | |
| ENST00000480384.1:n.417G>C | ||
| ENST00000491768.5:c.388G>C | ENSP00000433127.1:p.Asp130His | |
| ENST00000495807.1:n.956G>C | ||
| NM_000434.3:c.388G>C | NP_000425.1:p.Asp130His | |
| NM_000434.4:c.388G>C MANE Select | NP_000425.1:p.Asp130His |