Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1234248G>C , CM000669.2:g.1234248G>C | GRCh38 |
| NC_000007.13:g.1273884G>C , CM000669.1:g.1273884G>C | GRCh37 |
| NC_000007.12:g.1240410G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316333.9:c.450+553G>C MANE Select | ENSP00000314480.8:n.450+553G>C | |
| ENST00000316333.8:c.450+553G>C | ENSP00000314480.8:n.450+553G>C | |
| NM_001080461.1:c.450+553G>C | NP_001073930.1:n.450+553G>C | |
| NM_001080461.2:c.450+553G>C | NP_001073930.1:n.450+553G>C | |
| NM_001080461.3:c.450+553G>C MANE Select | NP_001073930.1:n.450+553G>C |