Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379391G>C , CM000685.2:g.154379391G>C | GRCh38 |
| NC_000023.10:g.153607751G>C , CM000685.1:g.153607751G>C | GRCh37 |
| NC_000023.9:g.153260945G>C | NCBI36 |
| NG_008677.1:g.9956G>C , LRG_745:g.9956G>C | |
| NG_011506.1:g.256C>G | |
| NG_011506.2:g.248C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369842.9:c.-94G>C MANE Select | ENSP00000358857.4:n.-94G>C | |
| ENST00000369835.3:c.-94G>C | ENSP00000358850.3:n.-94G>C | |
| ENST00000369842.8:c.-94G>C | ENSP00000358857.4:n.-94G>C | |
| ENST00000428228.5:c.-94G>C | ENSP00000401081.1:n.-94G>C | |
| ENST00000486738.5:n.51G>C | ||
| NM_000117.2:c.-94G>C , LRG_745t1:c.-94G>C | NP_000108.1:n.-94G>C | |
| XM_024452349.1:c.-302G>C | XP_024308117.1:n.-302G>C | |
| NM_000117.3:c.-94G>C MANE Select | NP_000108.1:n.-94G>C |