Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641459C>G , CM000682.2:g.10641459C>G | GRCh38 |
| NC_000020.10:g.10622107C>G , CM000682.1:g.10622107C>G | GRCh37 |
| NC_000020.9:g.10570107C>G | NCBI36 |
| NG_007496.1:g.37588G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2916+1G>C MANE Select | NP_000205.1:n.2916+1G>C |
| ENST00000254958.10:c.2916+1G>C MANE Select | ENSP00000254958.4:n.2916+1G>C |
| NM_000214.2:c.2916+1G>C | NP_000205.1:n.2916+1G>C |
| ENST00000254958.9:c.2916+1G>C | ENSP00000254958.4:n.2916+1G>C |
| ENST00000423891.6:n.2782+1G>C |