Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835451A>C , CM000670.2:g.117835451A>C | GRCh38 |
| NC_000008.10:g.118847690A>C , CM000670.1:g.118847690A>C | GRCh37 |
| NC_000008.9:g.118916871A>C | NCBI36 |
| NG_007455.2:g.281369T>G , LRG_493:g.281369T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.1157T>G MANE Select | NP_000118.2:p.Leu386Ter |
| ENST00000378204.7:c.1157T>G MANE Select | ENSP00000367446.3:p.Leu386Ter |
| NM_000127.2:c.1157T>G , LRG_493t1:c.1157T>G | NP_000118.2:p.Leu386Ter |
| ENST00000378204.6:c.1157T>G | ENSP00000367446.2:p.Leu386Ter |
| ENST00000436216.1:c.525T>G | |
| ENST00000436216.2:c.525T>G | |
| ENST00000437196.1:c.*48T>G | ENSP00000407299.1:n.*48T>G |
| ENST00000684189.1:n.624T>G |