Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154903944T= , CM000685.2:g.154903944T= | GRCh38 |
| NC_000023.10:g.154132219T= , CM000685.1:g.154132219T= | GRCh37 |
| NC_000023.9:g.153785413T= | NCBI36 |
| NG_011403.1:g.123780A= | |
| NG_011403.2:g.123780A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5960A= MANE Select | ENSP00000353393.4:p.Lys1987= | |
| ENST00000360256.8:c.5960A= | ENSP00000353393.4:p.Lys1987= | |
| NM_000132.3:c.5960A= | NP_000123.1:p.Lys1987= | |
| XM_011531126.1:c.5855A= | XP_011529428.1:p.Lys1952= | |
| NM_000132.4:c.5960A= MANE Select | NP_000123.1:p.Lys1987= |