Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18038806C>T , CM000673.2:g.18038806C>T | GRCh38 |
| NC_000011.9:g.18060353C>T , CM000673.1:g.18060353C>T | GRCh37 |
| NC_000011.8:g.18016929C>T | NCBI36 |
| NG_011947.1:g.6983G>A | |
| NG_011947.2:g.6983G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004179.3:c.117+1840G>A MANE Select | NP_004170.1:n.117+1840G>A |
| ENST00000682019.1:c.117+1840G>A MANE Select | ENSP00000508368.1:n.117+1840G>A |
| NM_004179.2:c.117+1840G>A | NP_004170.1:n.117+1840G>A |
| ENST00000250018.6:c.117+1840G>A | ENSP00000250018.2:n.117+1840G>A |
| ENST00000417164.5:c.117+1840G>A | ENSP00000403831.1:n.117+1840G>A |
| ENST00000528338.1:c.147+1840G>A | ENSP00000436081.1:n.147+1840G>A |