Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878151G= , CM000664.2:g.240878151G= | GRCh38 |
| NC_000002.11:g.241817568G= , CM000664.1:g.241817568G= | GRCh37 |
| NC_000002.10:g.241466241G= | NCBI36 |
| NG_008005.1:g.14407G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.1071+1G= MANE Select | NP_000021.1:n.1071+1G= |
| ENST00000307503.4:c.1071+1G= MANE Select | ENSP00000302620.3:n.1071+1G= |
| NM_000030.2:c.1071+1G= | NP_000021.1:n.1071+1G= |
| ENST00000307503.3:c.1071+1G= | ENSP00000302620.3:n.1071+1G= |
| ENST00000470255.1:n.849+1G= |