Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875170G= , CM000664.2:g.240875170G= | GRCh38 |
| NC_000002.11:g.241814587G= , CM000664.1:g.241814587G= | GRCh37 |
| NC_000002.10:g.241463260G= | NCBI36 |
| NG_008005.1:g.11426G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.742G= MANE Select | ENSP00000302620.3:p.Ala248= | |
| ENST00000307503.3:c.742G= | ENSP00000302620.3:p.Ala248= | |
| ENST00000476698.1:n.394G= | ||
| NM_000030.2:c.742G= | NP_000021.1:p.Ala248= | |
| NM_000030.3:c.742G= MANE Select | NP_000021.1:p.Ala248= |