Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176116874T>G , CM000664.2:g.176116874T>G | GRCh38 |
| NC_000002.11:g.176981602T>G , CM000664.1:g.176981602T>G | GRCh37 |
| NC_000002.10:g.176689848T>G | NCBI36 |
| NG_008133.2:g.10111T>G , LRG_246:g.10111T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002148.4:c.41T>G MANE Select | NP_002139.2:p.Leu14Ter |
| ENST00000249501.5:c.41T>G MANE Select | ENSP00000249501.4:p.Leu14Ter |
| NM_002148.3:c.41T>G , LRG_246t1:c.41T>G | NP_002139.2:p.Leu14Ter |
| ENST00000249501.4:c.41T>G | ENSP00000249501.4:p.Leu14Ter |
| ENST00000490088.2:n.570-2080T>G | |
| ENST00000549469.1:n.617-2080T>G |