Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85540632T>C , CM000664.2:g.85540632T>C | GRCh38 |
| NC_000002.11:g.85767755T>C , CM000664.1:g.85767755T>C | GRCh37 |
| NC_000002.10:g.85621266T>C | NCBI36 |
| NG_029183.1:g.6655T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306434.8:c.92-451T>C MANE Select | ENSP00000303147.3:n.92-451T>C | |
| ENST00000306434.7:c.92-451T>C | ENSP00000303147.3:n.92-451T>C | |
| ENST00000409017.1:c.-98-451T>C | ENSP00000386353.1:n.-98-451T>C | |
| ENST00000465151.5:n.212-451T>C | ||
| ENST00000469221.5:n.212-451T>C | ||
| ENST00000481412.5:n.70-451T>C | ||
| NM_005911.5:c.92-451T>C | NP_005902.1:n.92-451T>C | |
| NM_005911.6:c.92-451T>C MANE Select | NP_005902.1:n.92-451T>C |