Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50905348C>G , CM000676.2:g.50905348C>G | GRCh38 |
| NC_000014.8:g.51372066C>G , CM000676.1:g.51372066C>G | GRCh37 |
| NC_000014.7:g.50441816C>G | NCBI36 |
| NG_012796.1:g.44183G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.*44G>C MANE Select | ENSP00000216392.7:n.*44G>C | |
| ENST00000216392.7:c.*44G>C | ENSP00000216392.7:n.*44G>C | |
| ENST00000532462.5:c.2379+2923G>C | ENSP00000431657.1:n.2379+2923G>C | |
| ENST00000544180.6:c.*44G>C | ENSP00000443787.1:n.*44G>C | |
| NM_001163940.1:c.*44G>C | NP_001157412.1:n.*44G>C | |
| NM_002863.4:c.*44G>C | NP_002854.3:n.*44G>C | |
| NM_002863.5:c.*44G>C MANE Select | NP_002854.3:n.*44G>C | |
| NM_001163940.2:c.*44G>C | NP_001157412.1:n.*44G>C |