Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18672015A>G , CM000685.2:g.18672015A>G | GRCh38 |
| NC_000023.10:g.18690135A>G , CM000685.1:g.18690135A>G | GRCh37 |
| NC_000023.9:g.18600056A>G | NCBI36 |
| NG_008659.3:g.10434T>C , LRG_702:g.10434T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000330.4:c.52+2T>C MANE Select | NP_000321.1:n.52+2T>C |
| ENST00000379984.4:c.52+2T>C MANE Select | ENSP00000369320.3:n.52+2T>C |
| NM_000330.3:c.52+2T>C , LRG_702t1:c.52+2T>C | NP_000321.1:n.52+2T>C |
| ENST00000379984.3:c.52+2T>C | ENSP00000369320.3:n.52+2T>C |