Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39248060A>G , CM000681.2:g.39248060A>G | GRCh38 |
| NC_000019.9:g.39738700A>G , CM000681.1:g.39738700A>G | GRCh37 |
| NC_000019.8:g.44430540A>G | NCBI36 |
| NG_042193.1:g.1912T>C | |
| NG_055295.1:g.5797T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000606380.2:c.152-65T>C | ENSP00000476098.1:n.152-65T>C | |
| ENST00000610963.1:c.151-65T>C | ENSP00000481371.1:n.151-65T>C | |
| ENST00000616270.4:c.152-65T>C | ENSP00000480679.1:n.152-65T>C | |
| ENST00000634680.1:c.151+369T>C | ENSP00000489240.1:n.151+369T>C | |
| ENST00000634967.1:c.152-65T>C | ENSP00000489559.1:n.152-65T>C | |
| NR_074079.1:n.429-65T>C |