Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94063319T>G , CM000663.2:g.94063319T>G | GRCh38 |
| NC_000001.10:g.94528875T>G , CM000663.1:g.94528875T>G | GRCh37 |
| NC_000001.9:g.94301463T>G | NCBI36 |
| NG_009073.1:g.62831A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.1555-2A>C MANE Select | NP_000341.2:n.1555-2A>C |
| ENST00000370225.4:c.1555-2A>C MANE Select | ENSP00000359245.3:n.1555-2A>C |
| NM_000350.2:c.1555-2A>C | NP_000341.2:n.1555-2A>C |
| ENST00000370225.3:c.1555-2A>C | ENSP00000359245.3:n.1555-2A>C |
| ENST00000649773.1:c.1555-2A>C | ENSP00000496882.1:n.1555-2A>C |