Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57236094A>G , CM000673.2:g.57236094A>G | GRCh38 |
| NC_000011.9:g.57003568A>G , CM000673.1:g.57003568A>G | GRCh37 |
| NC_000011.8:g.56760144A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005161.6:c.911T>C MANE Select | NP_005152.1:p.Leu304Pro |
| ENST00000606794.2:c.911T>C MANE Select | ENSP00000475344.1:p.Leu304Pro |
| NM_005161.4:c.911T>C | NP_005152.1:p.Leu304Pro |
| NR_027991.1:n.1360T>C | |
| NR_027991.2:n.1157T>C | |
| ENST00000257254.3:c.911T>C | ENSP00000257254.3:p.Leu304Pro |
| ENST00000606794.1:c.911T>C | ENSP00000475344.1:p.Leu304Pro |
| ENST00000611099.1:c.911T>C | ENSP00000477818.1:p.Leu304Pro |