Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38041145T>G , CM000671.2:g.38041145T>G | GRCh38 |
| NC_000009.11:g.38041142T>G , CM000671.1:g.38041142T>G | GRCh37 |
| NC_000009.10:g.38031142T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003028.3:c.718-25014A>C MANE Select | NP_003019.2:n.718-25014A>C |
| ENST00000377707.4:c.718-25014A>C MANE Select | ENSP00000366936.3:n.718-25014A>C |
| NM_003028.2:c.718-25014A>C | NP_003019.2:n.718-25014A>C |
| ENST00000377707.3:c.718-25014A>C | ENSP00000366936.3:n.718-25014A>C |
| ENST00000540557.1:c.718-25014A>C | ENSP00000457548.1:n.718-25014A>C |