Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57241070T>C , CM000682.2:g.57241070T>C | GRCh38 |
| NC_000020.10:g.55816126T>C , CM000682.1:g.55816126T>C | GRCh37 |
| NC_000020.9:g.55249533T>C | NCBI36 |
| NG_032771.1:g.30582A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395863.8:c.419-12649A>G MANE Select | ENSP00000379204.3:n.419-12649A>G | |
| ENST00000395863.7:c.419-12649A>G | ENSP00000379204.3:n.419-12649A>G | |
| ENST00000395864.7:c.419-12649A>G | ENSP00000379205.3:n.419-12649A>G | |
| ENST00000433911.1:c.75-12649A>G | ||
| ENST00000450594.6:c.419-12649A>G | ENSP00000398687.2:n.419-12649A>G | |
| ENST00000530870.1:n.171+2794A>G | ||
| NM_001719.2:c.419-12649A>G | NP_001710.1:n.419-12649A>G | |
| NM_001719.3:c.419-12649A>G MANE Select | NP_001710.1:n.419-12649A>G |