ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115744914T>C , CM000663.2:g.115744914T>C | GRCh38 |
| NC_000001.10:g.116287535T>C , CM000663.1:g.116287535T>C | GRCh37 |
| NC_000001.9:g.116089058T>C | NCBI36 |
| NG_008802.1:g.28892A>G , LRG_404:g.28892A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-42-2A>G | ENSP00000518226.1:n.-42-2A>G | |
| ENST00000261448.6:c.235-2A>G MANE Select | ENSP00000261448.5:n.235-2A>G | |
| ENST00000261448.5:c.235-2A>G | ENSP00000261448.5:n.235-2A>G | |
| NM_001232.3:c.235-2A>G , LRG_404t1:c.235-2A>G | NP_001223.2:n.235-2A>G | |
| NM_001232.4:c.235-2A>G MANE Select | NP_001223.2:n.235-2A>G |