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