Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216064386T>G , CM000663.2:g.216064386T>G | GRCh38 |
| NC_000001.10:g.216237728T>G , CM000663.1:g.216237728T>G | GRCh37 |
| NC_000001.9:g.214304351T>G | NCBI36 |
| NG_009497.1:g.364011A>C | |
| NG_009497.2:g.364063A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.6049+5715A>C MANE Select | NP_996816.3:n.6049+5715A>C |
| ENST00000307340.8:c.6049+5715A>C MANE Select | ENSP00000305941.3:n.6049+5715A>C |
| NM_206933.2:c.6049+5715A>C | NP_996816.2:n.6049+5715A>C |
| NM_206933.3:c.6049+5715A>C | NP_996816.2:n.6049+5715A>C |
| ENST00000307340.7:c.6049+5715A>C | ENSP00000305941.3:n.6049+5715A>C |
| ENST00000674083.1:c.6049+5715A>C | ENSP00000501296.1:n.6049+5715A>C |