Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88723323C>T , CM000678.2:g.88723323C>T | GRCh38 |
| NC_000016.9:g.88789731C>T , CM000678.1:g.88789731C>T | GRCh37 |
| NC_000016.8:g.87317232C>T | NCBI36 |
| NG_042229.1:g.66898G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142864.4:c.4341G>A MANE Select | NP_001136336.2:p.Ala1447= |
| ENST00000301015.14:c.4341G>A MANE Select | ENSP00000301015.9:p.Ala1447= |
| NM_001142864.2:c.4341G>A | NP_001136336.2:p.Ala1447= |
| NM_001142864.3:c.4341G>A | NP_001136336.2:p.Ala1447= |
| ENST00000301015.13:c.4341G>A | ENSP00000301015.9:p.Ala1447= |
| ENST00000474606.1:c.362G>A | |
| ENST00000566414.1:n.70G>A |