Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957827C>G , CM000669.2:g.142957827C>G | GRCh38 |
| NC_000007.13:g.142654914C>G , CM000669.1:g.142654914C>G | GRCh37 |
| NC_000007.12:g.142365036C>G | NCBI36 |
| NG_007492.1:g.9590G>C | |
| NG_007492.2:g.9590G>C | |
| NG_007492.3:g.9590G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.672G>C MANE Select | ENSP00000347409.2:p.Gln224His | |
| ENST00000355265.6:c.672G>C | ENSP00000347409.2:p.Gln224His | |
| ENST00000476829.5:c.525+477G>C | ENSP00000419889.1:n.525+477G>C | |
| ENST00000479768.6:n.790G>C | ||
| ENST00000494148.1:n.271G>C | ||
| NM_000420.2:c.672G>C | NP_000411.1:p.Gln224His | |
| XM_005249993.2:c.708G>C | XP_005250050.1:p.Gln236His | |
| NM_000420.3:c.672G>C MANE Select | NP_000411.1:p.Gln224His |