Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118947730T>C , CM000670.2:g.118947730T>C | GRCh38 |
| NC_000008.10:g.119959969T>C , CM000670.1:g.119959969T>C | GRCh37 |
| NC_000008.9:g.120029150T>C | NCBI36 |
| NG_012202.1:g.9415A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297350.9:c.30+4062A>G MANE Select | ENSP00000297350.4:n.30+4062A>G | |
| ENST00000297350.8:c.30+4062A>G | ENSP00000297350.4:n.30+4062A>G | |
| ENST00000517352.1:c.30+4062A>G | ENSP00000427924.1:n.30+4062A>G | |
| NM_002546.3:c.30+4062A>G | NP_002537.3:n.30+4062A>G | |
| NM_002546.4:c.30+4062A>G MANE Select | NP_002537.3:n.30+4062A>G |