Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117836960T>C , CM000670.2:g.117836960T>C | GRCh38 |
| NC_000008.10:g.118849199T>C , CM000670.1:g.118849199T>C | GRCh37 |
| NC_000008.9:g.118918380T>C | NCBI36 |
| NG_007455.2:g.279860A>G , LRG_493:g.279860A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.523+148A>G | ||
| ENST00000378204.7:c.1056+148A>G MANE Select | ENSP00000367446.3:n.1056+148A>G | |
| ENST00000436216.2:c.424+148A>G | ||
| ENST00000378204.6:c.1056+148A>G | ENSP00000367446.2:n.1056+148A>G | |
| ENST00000436216.1:c.424+148A>G | ||
| ENST00000437196.1:c.74-1409A>G | ENSP00000407299.1:n.74-1409A>G | |
| NM_000127.2:c.1056+148A>G , LRG_493t1:c.1056+148A>G | NP_000118.2:n.1056+148A>G | |
| NM_000127.3:c.1056+148A>G MANE Select | NP_000118.2:n.1056+148A>G |