Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47834544G>C , CM000681.2:g.47834544G>C | GRCh38 |
| NC_000019.9:g.48337801G>C , CM000681.1:g.48337801G>C | GRCh37 |
| NC_000019.8:g.53029613G>C | NCBI36 |
| NG_008605.1:g.17703G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221996.12:c.100+1G>C MANE Select | ENSP00000221996.5:n.100+1G>C | |
| ENST00000221996.11:c.100+1G>C | ENSP00000221996.5:n.100+1G>C | |
| ENST00000539067.5:c.100+1G>C | ENSP00000445565.1:n.100+1G>C | |
| ENST00000556527.1:n.78-1699G>C | ||
| ENST00000566686.5:c.100+1G>C | ENSP00000457808.2:n.100+1G>C | |
| ENST00000613299.1:c.100+1G>C | ENSP00000478106.1:n.100+1G>C | |
| NM_000554.4:c.100+1G>C | NP_000545.1:n.100+1G>C | |
| NM_000554.5:c.100+1G>C | NP_000545.1:n.100+1G>C | |
| NM_000554.6:c.100+1G>C MANE Select | NP_000545.1:n.100+1G>C |