Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129429T= , CM000664.2:g.208129429T= | GRCh38 |
| NC_000002.11:g.208994153T= , CM000664.1:g.208994153T= | GRCh37 |
| NC_000002.10:g.208702398T= | NCBI36 |
| NG_008038.1:g.5402A= | |
| NG_008039.1:g.161A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.252+12A= MANE Select | ENSP00000282141.3:n.252+12A= | |
| ENST00000282141.3:c.252+12A= | ENSP00000282141.3:n.252+12A= | |
| NM_020989.3:c.252+12A= | NP_066269.1:n.252+12A= | |
| NR_038437.1:n.98-7627T= | ||
| XM_011510661.1:c.252+12A= | XP_011508963.1:n.252+12A= | |
| XM_011510662.1:c.252+12A= | XP_011508964.1:n.252+12A= | |
| XM_011510663.1:c.123+12A= | XP_011508965.1:n.123+12A= | |
| NM_020989.4:c.252+12A= MANE Select | NP_066269.1:n.252+12A= |