Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127936674C>G , CM000671.2:g.127936674C>G | GRCh38 |
| NC_000009.11:g.130698953C>G , CM000671.1:g.130698953C>G | GRCh37 |
| NC_000009.10:g.129738774C>G | NCBI36 |
| NG_032927.1:g.6811G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314392.13:c.94-19G>C MANE Select | ENSP00000322181.8:n.94-19G>C | |
| ENST00000314392.12:c.94-19G>C | ENSP00000322181.8:n.94-19G>C | |
| ENST00000373110.4:c.94-19G>C | ENSP00000362202.4:n.94-19G>C | |
| ENST00000470181.1:n.386-19G>C | ||
| ENST00000473360.1:n.346+760G>C | ||
| ENST00000495270.1:n.859G>C | ||
| NM_003863.3:c.94-19G>C | NP_003854.1:n.94-19G>C | |
| NM_003863.4:c.94-19G>C MANE Select | NP_003854.1:n.94-19G>C | |
| NM_001378437.1:c.4-19G>C | NP_001365366.1:n.4-19G>C | |
| NR_165631.1:n.232G>C | ||
| NR_165632.1:n.38-894G>C |