Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165754626C= , CM000664.2:g.165754626C= | GRCh38 |
| NC_000002.11:g.166611136C= , CM000664.1:g.166611136C= | GRCh37 |
| NC_000002.10:g.166319382C= | NCBI36 |
| NG_012069.1:g.44668G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004482.4:c.1626+1G= MANE Select | NP_004473.2:n.1626+1G= |
| ENST00000392701.8:c.1626+1G= MANE Select | ENSP00000376465.3:n.1626+1G= |
| NM_004482.3:c.1626+1G= | NP_004473.2:n.1626+1G= |
| ENST00000392701.7:c.1626+1G= | ENSP00000376465.3:n.1626+1G= |
| ENST00000409882.5:c.840+1G= | ENSP00000386955.1:n.840+1G= |
| XM_005246449.1:c.1626+1G= | XP_005246506.1:n.1626+1G= |
| XM_011510929.1:c.1626+1G= | XP_011509231.1:n.1626+1G= |
| XM_017003770.1:c.1626+1G= | XP_016859259.1:n.1626+1G= |
| XR_002959253.1:n.1902+1G= |