Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816614C>G , CM000681.2:g.4816614C>G | GRCh38 |
| NC_000019.9:g.4816626C>G , CM000681.1:g.4816626C>G | GRCh37 |
| NC_000019.8:g.4767626C>G | NCBI36 |
| NG_031998.1:g.20129G>C , LRG_358:g.20129G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1764G>C MANE Select | ENSP00000248244.4:p.Gln588His | |
| ENST00000248244.5:c.1764G>C | ENSP00000248244.4:p.Gln588His | |
| ENST00000621756.1:c.1347G>C | ENSP00000479467.1:p.Gln449His | |
| NM_182919.3:c.1764G>C , LRG_358t1:c.1764G>C | NP_891549.1:p.Gln588His | |
| NM_001385678.1:c.1722G>C | NP_001372607.1:p.Gln574His | |
| NM_001385679.1:c.1629G>C | NP_001372608.1:p.Gln543His | |
| NM_001385680.1:c.1122G>C | NP_001372609.1:p.Gln374His | |
| NM_182919.4:c.1764G>C MANE Select | NP_891549.1:p.Gln588His |