Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100420874A>C , CM000674.2:g.100420874A>C | GRCh38 |
| NC_000012.11:g.100814652A>C , CM000674.1:g.100814652A>C | GRCh37 |
| NC_000012.10:g.99338783A>C | NCBI36 |
| NG_021175.1:g.68796A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139319.3:c.*715A>C MANE Select | NP_647480.1:n.*715A>C |
| ENST00000323346.10:c.*715A>C MANE Select | ENSP00000316909.4:n.*715A>C |
| NM_001145288.1:c.*715A>C | NP_001138760.1:n.*715A>C |
| NM_001145288.2:c.*715A>C | NP_001138760.1:n.*715A>C |
| NM_139319.2:c.*715A>C | NP_647480.1:n.*715A>C |
| ENST00000323346.9:c.*715A>C | ENSP00000316909.4:n.*715A>C |