Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039428G= , CM000663.2:g.197039428G= | GRCh38 |
| NC_000001.10:g.197008558G= , CM000663.1:g.197008558G= | GRCh37 |
| NC_000001.9:g.195275181G= | NCBI36 |
| NG_012065.1:g.32840C= , LRG_550:g.32840C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.1953-17C= MANE Select | ENSP00000356382.2:n.1953-17C= | |
| ENST00000649282.1:c.708-17C= | ENSP00000497116.1:n.708-17C= | |
| ENST00000367412.1:c.1953-17C= | ENSP00000356382.1:n.1953-17C= | |
| NM_001994.2:c.1953-17C= , LRG_550t1:c.1953-17C= | NP_001985.2:n.1953-17C= | |
| XM_011509283.2:c.*871C= | XP_011507585.1:n.*871C= | |
| XM_011509284.2:c.*871C= | XP_011507586.1:n.*871C= | |
| XM_011509286.2:c.*871C= | XP_011507588.1:n.*871C= | |
| NM_001994.3:c.1953-17C= MANE Select | NP_001985.2:n.1953-17C= |