Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189003134C>T , CM000664.2:g.189003134C>T | GRCh38 |
| NC_000002.11:g.189867860C>T , CM000664.1:g.189867860C>T | GRCh37 |
| NC_000002.10:g.189576105C>T | NCBI36 |
| NG_007404.1:g.33762C>T , LRG_3:g.33762C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2454+72C>T | ENSP00000415346.2:n.2454+72C>T | |
| ENST00000304636.9:c.2553+72C>T MANE Select | ENSP00000304408.4:n.2553+72C>T | |
| ENST00000304636.7:c.2553+72C>T | ENSP00000304408.3:n.2553+72C>T | |
| ENST00000317840.9:c.2527+98C>T | ENSP00000315243.6:n.2527+98C>T | |
| NM_000090.3:c.2553+72C>T , LRG_3t1:c.2553+72C>T | NP_000081.1:n.2553+72C>T | |
| NM_000090.4:c.2553+72C>T MANE Select | NP_000081.2:n.2553+72C>T |