Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169482249A>C , CM000664.2:g.169482249A>C | GRCh38 |
| NC_000002.11:g.170338759A>C , CM000664.1:g.170338759A>C | GRCh37 |
| NC_000002.10:g.170047005A>C | NCBI36 |
| NG_011567.1:g.7754A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152384.3:c.60-2A>C MANE Select | NP_689597.1:n.60-2A>C |
| ENST00000295240.8:c.60-2A>C MANE Select | ENSP00000295240.3:n.60-2A>C |
| NM_152384.2:c.60-2A>C | NP_689597.1:n.60-2A>C |
| ENST00000295240.7:c.60-2A>C | ENSP00000295240.3:n.60-2A>C |
| ENST00000392663.6:c.60-2A>C | ENSP00000376431.2:n.60-2A>C |
| ENST00000443151.1:c.60-2A>C | ENSP00000406182.1:n.60-2A>C |
| ENST00000469980.1:n.134-2A>C | |
| ENST00000513963.1:c.60-2A>C | ENSP00000424363.1:n.60-2A>C |