Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40170019T>C , CM000677.2:g.40170019T>C | GRCh38 |
| NC_000015.9:g.40462220T>C , CM000677.1:g.40462220T>C | GRCh37 |
| NC_000015.8:g.38249512T>C | NCBI36 |
| NG_016338.1:g.14011T>C , LRG_489:g.14011T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.180-43T>C MANE Select | NP_001202.5:n.180-43T>C |
| ENST00000287598.11:c.180-43T>C MANE Select | ENSP00000287598.7:n.180-43T>C |
| NM_001211.5:c.180-43T>C , LRG_489t1:c.180-43T>C | NP_001202.4:n.180-43T>C |
| ENST00000287598.10:c.180-43T>C | ENSP00000287598.6:n.180-43T>C |
| ENST00000412359.7:c.180-43T>C | ENSP00000398470.3:n.180-43T>C |
| ENST00000558715.5:c.*13-43T>C | ENSP00000453861.1:n.*13-43T>C |
| ENST00000559414.5:n.358-43T>C | |
| ENST00000560120.5:n.234-43T>C |