Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149003290T>G , CM000667.2:g.149003290T>G | GRCh38 |
| NC_000005.9:g.148382853T>G , CM000667.1:g.148382853T>G | GRCh37 |
| NC_000005.8:g.148363046T>G | NCBI36 |
| NG_007947.2:g.64885A>C , LRG_269:g.64885A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024577.4:c.*1421A>C MANE Select | NP_078853.2:n.*1421A>C |
| ENST00000515425.6:c.*1421A>C MANE Select | ENSP00000423660.1:n.*1421A>C |
| NM_024577.3:c.*1421A>C , LRG_269t1:c.*1421A>C | NP_078853.2:n.*1421A>C |
| ENST00000323829.9:c.*4676A>C | ENSP00000313025.5:n.*4676A>C |
| ENST00000504690.5:c.*12+436A>C | ENSP00000425627.1:n.*12+436A>C |
| ENST00000510350.1:n.231+3591A>C | |
| ENST00000515229.5:n.455-205A>C | |
| ENST00000643113.1:c.268-205A>C | |
| ENST00000675793.1:c.*6345A>C | ENSP00000502039.1:n.*6345A>C |