Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43552979C>G , CM000681.2:g.43552979C>G | GRCh38 |
| NC_000019.9:g.44057131C>G , CM000681.1:g.44057131C>G | GRCh37 |
| NC_000019.8:g.48748971C>G | NCBI36 |
| NG_033799.1:g.27600G>C , LRG_784:g.27600G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006297.3:c.711+3G>C MANE Select | NP_006288.2:n.711+3G>C |
| ENST00000262887.10:c.711+3G>C MANE Select | ENSP00000262887.5:n.711+3G>C |
| NM_006297.2:c.711+3G>C , LRG_784t1:c.711+3G>C | NP_006288.2:n.711+3G>C |
| ENST00000262887.9:c.711+3G>C | ENSP00000262887.4:n.711+3G>C |
| ENST00000543982.5:c.618+3G>C | ENSP00000443671.1:n.618+3G>C |
| ENST00000595789.5:n.762G>C | |
| ENST00000597811.5:c.387-136G>C | |
| ENST00000598165.5:c.732+3G>C | ENSP00000470045.1:n.732+3G>C |
| ENST00000598422.1:n.391+3G>C |