Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123630396C= , CM000674.2:g.123630396C= | GRCh38 |
| NC_000012.11:g.124114943C= , CM000674.1:g.124114943C= | GRCh37 |
| NC_000012.10:g.122680896C= | NCBI36 |
| NG_015862.1:g.8381G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424014.7:c.252+1G= MANE Select | ENSP00000416250.2:n.252+1G= | |
| ENST00000424014.6:c.252+1G= | ENSP00000416250.2:n.252+1G= | |
| ENST00000452159.6:n.383+1G= | ||
| ENST00000534960.5:c.299+1G= | ||
| ENST00000537073.1:c.252+1G= | ENSP00000444183.1:n.252+1G= | |
| ENST00000539951.5:c.213+1G= | ENSP00000438060.1:n.213+1G= | |
| ENST00000543940.1:n.352+1G= | ||
| NM_001414.3:c.252+1G= | NP_001405.1:n.252+1G= | |
| NM_001414.4:c.252+1G= MANE Select | NP_001405.1:n.252+1G= |