Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966746C>A , CM000685.2:g.154966746C>A | GRCh38 |
| NC_000023.10:g.154195021C>A , CM000685.1:g.154195021C>A | GRCh37 |
| NC_000023.9:g.153848215C>A | NCBI36 |
| NG_011403.1:g.60978G>T | |
| NG_011403.2:g.60978G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1010-59G>T MANE Select | ENSP00000353393.4:n.1010-59G>T | |
| ENST00000647125.1:c.*886-59G>T | ENSP00000496062.1:n.*886-59G>T | |
| ENST00000360256.8:c.1010-59G>T | ENSP00000353393.4:n.1010-59G>T | |
| NM_000132.3:c.1010-59G>T | NP_000123.1:n.1010-59G>T | |
| XM_011531126.1:c.905-59G>T | XP_011529428.1:n.905-59G>T | |
| NM_000132.4:c.1010-59G>T MANE Select | NP_000123.1:n.1010-59G>T |