Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768306A>G , CM000663.2:g.115768306A>G | GRCh38 |
| NC_000001.10:g.116310927A>G , CM000663.1:g.116310927A>G | GRCh37 |
| NC_000001.9:g.116112450A>G | NCBI36 |
| NG_008802.1:g.5500T>C , LRG_404:g.5500T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001232.4:c.234+2T>C MANE Select | NP_001223.2:n.234+2T>C |
| ENST00000261448.6:c.234+2T>C MANE Select | ENSP00000261448.5:n.234+2T>C |
| NM_001232.3:c.234+2T>C , LRG_404t1:c.234+2T>C | NP_001223.2:n.234+2T>C |
| ENST00000261448.5:c.234+2T>C | ENSP00000261448.5:n.234+2T>C |
| ENST00000488931.2:c.-43+2T>C | ENSP00000518226.1:n.-43+2T>C |