Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104041053C>G , CM000672.2:g.104041053C>G | GRCh38 |
| NC_000010.10:g.105800811C>G , CM000672.1:g.105800811C>G | GRCh37 |
| NC_000010.9:g.105790801C>G | NCBI36 |
| NG_007069.1:g.49828G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.2701+12G>C MANE Select | NP_000485.3:n.2701+12G>C |
| ENST00000648076.2:c.2701+12G>C MANE Select | ENSP00000497653.1:n.2701+12G>C |
| NM_000494.3:c.2701+12G>C | NP_000485.3:n.2701+12G>C |
| ENST00000353479.9:c.2701+12G>C | ENSP00000340937.5:n.2701+12G>C |
| ENST00000369733.7:c.2701+12G>C | ENSP00000358748.3:n.2701+12G>C |
| ENST00000369733.8:c.2701+12G>C | ENSP00000358748.3:n.2701+12G>C |