Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192812047T>C , CM000663.2:g.192812047T>C | GRCh38 |
| NC_000001.10:g.192781177T>C , CM000663.1:g.192781177T>C | GRCh37 |
| NC_000001.9:g.191047800T>C | NCBI36 |
| NG_012800.1:g.8009T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*451T>C MANE Select | ENSP00000235382.5:n.*451T>C | |
| ENST00000235382.6:c.*451T>C | ENSP00000235382.5:n.*451T>C | |
| NM_002923.3:c.*451T>C | NP_002914.1:n.*451T>C | |
| NM_002923.4:c.*451T>C MANE Select | NP_002914.1:n.*451T>C |