Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530057G>C , CM000681.2:g.7530057G>C | GRCh38 |
| NC_000019.9:g.7594943G>C , CM000681.1:g.7594943G>C | GRCh37 |
| NC_000019.8:g.7500943G>C | NCBI36 |
| NG_013374.1:g.906G>C | |
| NG_015806.1:g.12448G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1360-229G>C MANE Select | ENSP00000264079.5:n.1360-229G>C | |
| ENST00000264079.10:c.1360-229G>C | ENSP00000264079.5:n.1360-229G>C | |
| ENST00000394321.9:n.1675-229G>C | ||
| ENST00000594692.1:n.356-229G>C | ||
| ENST00000595860.5:n.543-229G>C | ||
| ENST00000599334.1:c.236+345G>C | ||
| NM_020533.2:c.1360-229G>C | NP_065394.1:n.1360-229G>C | |
| NM_020533.3:c.1360-229G>C MANE Select | NP_065394.1:n.1360-229G>C |