Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47607212A>G , CM000685.2:g.47607212A>G | GRCh38 |
| NC_000023.10:g.47466611A>G , CM000685.1:g.47466611A>G | GRCh37 |
| NC_000023.9:g.47351555A>G | NCBI36 |
| NG_008437.1:g.17646T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006950.3:c.378-14T>C MANE Select | NP_008881.2:n.378-14T>C |
| ENST00000295987.13:c.378-14T>C MANE Select | ENSP00000295987.7:n.378-14T>C |
| NM_133499.2:c.378-14T>C | NP_598006.1:n.378-14T>C |
| ENST00000295987.11:c.378-14T>C | ENSP00000295987.7:n.378-14T>C |
| ENST00000340666.4:c.378-14T>C | ENSP00000343206.4:n.378-14T>C |
| ENST00000340666.5:c.378-14T>C | ENSP00000343206.4:n.378-14T>C |
| ENST00000639776.1:c.37-14T>C |