Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10645258T>G , CM000682.2:g.10645258T>G | GRCh38 |
| NC_000020.10:g.10625906T>G , CM000682.1:g.10625906T>G | GRCh37 |
| NC_000020.9:g.10573906T>G | NCBI36 |
| NG_007496.1:g.33789A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2114-2A>C MANE Select | NP_000205.1:n.2114-2A>C |
| ENST00000254958.10:c.2114-2A>C MANE Select | ENSP00000254958.4:n.2114-2A>C |
| NM_000214.2:c.2114-2A>C | NP_000205.1:n.2114-2A>C |
| ENST00000254958.9:c.2114-2A>C | ENSP00000254958.4:n.2114-2A>C |
| ENST00000423891.6:n.1980-2A>C | |
| ENST00000488480.2:n.511-2A>C | |
| ENST00000617965.2:n.2703-2A>C |