Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10485360T>C , CM000680.2:g.10485360T>C | GRCh38 |
| NC_000018.9:g.10485357T>C , CM000680.1:g.10485357T>C | GRCh37 |
| NC_000018.8:g.10475357T>C | NCBI36 |
| NG_027685.1:g.35733T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153000.5:c.775-102T>C MANE Select | NP_694545.1:n.775-102T>C |
| ENST00000355285.10:c.775-102T>C MANE Select | ENSP00000347433.4:n.775-102T>C |
| NM_153000.4:c.775-102T>C | NP_694545.1:n.775-102T>C |
| ENST00000355285.9:c.775-102T>C | ENSP00000347433.4:n.775-102T>C |
| ENST00000423585.2:c.59-102T>C | ENSP00000404930.2:n.59-102T>C |
| ENST00000578882.1:c.454-392T>C | ENSP00000463104.1:n.454-392T>C |
| ENST00000579685.1:c.198-102T>C | ENSP00000464649.1:n.198-102T>C |
| ENST00000582723.1:c.*522-102T>C | ENSP00000463110.1:n.*522-102T>C |