Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12355974T>G , CM000663.2:g.12355974T>G | GRCh38 |
| NC_000001.10:g.12416031T>G , CM000663.1:g.12416031T>G | GRCh37 |
| NC_000001.9:g.12338618T>G | NCBI36 |
| NG_056877.1:g.130936T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015378.4:c.9755T>G MANE Select | NP_056193.2:p.Met3252Arg |
| ENST00000620676.6:c.9755T>G MANE Select | ENSP00000478104.1:p.Met3252Arg |
| NM_015378.3:c.9755T>G | NP_056193.2:p.Met3252Arg |
| NM_018156.3:c.9680T>G | NP_060626.2:p.Met3227Arg |
| NM_018156.4:c.9680T>G | NP_060626.2:p.Met3227Arg |
| ENST00000011700.10:c.6220T>G | |
| ENST00000460333.5:n.3758T>G | |
| ENST00000613099.4:c.9680T>G | ENSP00000482233.1:p.Met3227Arg |
| ENST00000620676.4:c.9755T>G | ENSP00000478104.1:p.Met3252Arg |
| ENST00000646917.1:c.4420T>G |