Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148267031A= , CM000669.2:g.148267031A= | GRCh38 |
| NC_000007.13:g.147964123A= , CM000669.1:g.147964123A= | GRCh37 |
| NC_000007.12:g.147595056A= | NCBI36 |
| NG_007092.2:g.2155671A= | |
| NG_007092.3:g.2156031A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.3382-2A= MANE Select | NP_054860.1:n.3382-2A= |
| ENST00000361727.8:c.3382-2A= MANE Select | ENSP00000354778.3:n.3382-2A= |
| NM_014141.5:c.3382-2A= | NP_054860.1:n.3382-2A= |
| ENST00000361727.7:c.3382-2A= | ENSP00000354778.3:n.3382-2A= |
| ENST00000627772.2:n.1555-2A= | |
| ENST00000628930.2:c.559-2A= | ENSP00000487516.1:n.559-2A= |
| ENST00000636242.1:n.183-2A= | |
| ENST00000636870.1:n.3244-2A= | |
| ENST00000637020.1:n.1200-2A= | |
| XM_006715919.1:c.1870-2A= | XP_006715982.1:n.1870-2A= |