Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56453071C>A , CM000674.2:g.56453071C>A | GRCh38 |
| NC_000012.11:g.56846855C>A , CM000674.1:g.56846855C>A | GRCh37 |
| NC_000012.10:g.55133122C>A | NCBI36 |
| NG_021397.1:g.6581G>T | |
| NG_021397.2:g.21096G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012064.4:c.606+1G>T MANE Select | NP_036196.1:n.606+1G>T |
| ENST00000652304.1:c.606+1G>T MANE Select | ENSP00000498622.1:n.606+1G>T |
| NM_012064.3:c.606+1G>T | NP_036196.1:n.606+1G>T |
| ENST00000257979.4:c.606+1G>T | ENSP00000257979.4:n.606+1G>T |
| ENST00000555551.1:n.563G>T | |
| ENST00000648304.1:c.*230+1G>T | ENSP00000497190.1:n.*230+1G>T |
| ENST00000648442.1:n.739+1G>T | |
| ENST00000650166.1:n.495+1G>T | |
| XM_011538354.1:c.321+1G>T | XP_011536656.1:n.321+1G>T |
| XM_017019306.1:c.249+1G>T | XP_016874795.1:n.249+1G>T |