Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117822598C>A , CM000670.2:g.117822598C>A | GRCh38 |
| NC_000008.10:g.118834837C>A , CM000670.1:g.118834837C>A | GRCh37 |
| NC_000008.9:g.118904018C>A | NCBI36 |
| NG_007455.2:g.294222G>T , LRG_493:g.294222G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.1285-1G>T MANE Select | NP_000118.2:n.1285-1G>T |
| ENST00000378204.7:c.1285-1G>T MANE Select | ENSP00000367446.3:n.1285-1G>T |
| NM_000127.2:c.1285-1G>T , LRG_493t1:c.1285-1G>T | NP_000118.2:n.1285-1G>T |
| ENST00000378204.6:c.1285-1G>T | ENSP00000367446.2:n.1285-1G>T |
| ENST00000436216.2:c.708-1G>T | |
| ENST00000437196.1:c.*176-1G>T | ENSP00000407299.1:n.*176-1G>T |
| ENST00000684189.1:n.752-1G>T |