Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96391587T>G , CM000667.2:g.96391587T>G | GRCh38 |
| NC_000005.9:g.95727291T>G , CM000667.1:g.95727291T>G | GRCh37 |
| NC_000005.8:g.95753047T>G | NCBI36 |
| NG_021161.1:g.46695A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.*1414A>C MANE Select | ENSP00000308024.2:n.*1414A>C | |
| ENST00000311106.7:c.*1414A>C | ENSP00000308024.2:n.*1414A>C | |
| NM_000439.4:c.*1414A>C | NP_000430.3:n.*1414A>C | |
| NM_001177875.1:c.*1414A>C | NP_001171346.1:n.*1414A>C | |
| NR_130776.1:n.354+11935T>G | ||
| NM_000439.5:c.*1414A>C MANE Select | NP_000430.3:n.*1414A>C | |
| NM_001177875.2:c.*1414A>C | NP_001171346.1:n.*1414A>C |