Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20368780A>C , CM000674.2:g.20368780A>C | GRCh38 |
| NC_000012.11:g.20521714A>C , CM000674.1:g.20521714A>C | GRCh37 |
| NC_000012.10:g.20412981A>C | NCBI36 |
| NG_030033.1:g.4536A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359062.4:c.-505A>C MANE Select | ENSP00000351957.3:n.-505A>C | |
| XM_006719086.2:c.-505A>C | XP_006719149.2:n.-505A>C | |
| NM_000921.5:c.-505A>C MANE Select | NP_000912.3:n.-505A>C | |
| NM_001378407.1:c.-505A>C | NP_001365336.1:n.-505A>C | |
| NM_001378408.1:c.-1533A>C | NP_001365337.1:n.-1533A>C |