Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9757459A>G , CM000674.2:g.9757459A>G | GRCh38 |
| NC_000012.11:g.9910055A>G , CM000674.1:g.9910055A>G | GRCh37 |
| NC_000012.10:g.9801322A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228434.7:c.65-1040T>C MANE Select | ENSP00000228434.3:n.65-1040T>C | |
| ENST00000416624.6:n.146-1040T>C | ||
| ENST00000536709.1:c.65-1040T>C | ENSP00000442597.1:n.65-1040T>C | |
| ENST00000543147.1:n.146-1040T>C | ||
| NM_001781.2:c.65-1040T>C MANE Select | NP_001772.1:n.65-1040T>C |