Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57228053C>T , CM000682.2:g.57228053C>T | GRCh38 |
| NC_000020.10:g.55803109C>T , CM000682.1:g.55803109C>T | GRCh37 |
| NC_000020.9:g.55236516C>T | NCBI36 |
| NG_032771.1:g.43599G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001719.3:c.611+176G>A MANE Select | NP_001710.1:n.611+176G>A |
| ENST00000395863.8:c.611+176G>A MANE Select | ENSP00000379204.3:n.611+176G>A |
| NM_001719.2:c.611+176G>A | NP_001710.1:n.611+176G>A |
| ENST00000395863.7:c.611+176G>A | ENSP00000379204.3:n.611+176G>A |
| ENST00000395864.7:c.611+176G>A | ENSP00000379205.3:n.611+176G>A |
| ENST00000433911.1:c.267+176G>A | |
| ENST00000450594.6:c.611+176G>A | ENSP00000398687.2:n.611+176G>A |
| ENST00000530870.1:n.364+176G>A |