Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19957636G>T , CM000670.2:g.19957636G>T | GRCh38 |
| NC_000008.10:g.19815147G>T , CM000670.1:g.19815147G>T | GRCh37 |
| NC_000008.9:g.19859427G>T | NCBI36 |
| NG_008855.1:g.23566G>T | |
| NG_008855.2:g.60920G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1018+1553G>T MANE Select | ENSP00000497642.1:n.1018+1553G>T | |
| ENST00000650478.1:c.79+1553G>T | ENSP00000497560.1:n.79+1553G>T | |
| ENST00000311322.8:c.1018+1553G>T | ENSP00000309757.6:n.1018+1553G>T | |
| NM_000237.2:c.1018+1553G>T | NP_000228.1:n.1018+1553G>T | |
| NM_000237.3:c.1018+1553G>T MANE Select | NP_000228.1:n.1018+1553G>T |