Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142922514C>A , CM000669.2:g.142922514C>A | GRCh38 |
| NC_000007.12:g.142329807C>A | NCBI36 |
| NG_046912.1:g.16210G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019841.7:c.1122+3015G>T MANE Select | NP_062815.3:n.1122+3015G>T |
| ENST00000265310.6:c.1122+3015G>T MANE Select | ENSP00000265310.1:n.1122+3015G>T |
| NM_019841.6:c.1122+3015G>T | NP_062815.3:n.1122+3015G>T |
| ENST00000265310.5:c.1122+3015G>T | ENSP00000265310.1:n.1122+3015G>T |
| ENST00000439304.5:c.957+3015G>T | ENSP00000406361.1:n.957+3015G>T |