Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117819866T>C , CM000670.2:g.117819866T>C | GRCh38 |
| NC_000008.10:g.118832105T>C , CM000670.1:g.118832105T>C | GRCh37 |
| NC_000008.9:g.118901286T>C | NCBI36 |
| NG_007455.2:g.296954A>G , LRG_493:g.296954A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.885-72A>G | ||
| ENST00000378204.7:c.1418-72A>G MANE Select | ENSP00000367446.3:n.1418-72A>G | |
| ENST00000378204.6:c.1418-72A>G | ENSP00000367446.2:n.1418-72A>G | |
| ENST00000437196.1:c.*309-72A>G | ENSP00000407299.1:n.*309-72A>G | |
| NM_000127.2:c.1418-72A>G , LRG_493t1:c.1418-72A>G | NP_000118.2:n.1418-72A>G | |
| NM_000127.3:c.1418-72A>G MANE Select | NP_000118.2:n.1418-72A>G |