Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117830234A>G , CM000670.2:g.117830234A>G | GRCh38 |
| NC_000008.10:g.118842473A>G , CM000670.1:g.118842473A>G | GRCh37 |
| NC_000008.9:g.118911654A>G | NCBI36 |
| NG_007455.2:g.286586T>C , LRG_493:g.286586T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.1280T>C MANE Select | NP_000118.2:p.Leu427Pro |
| ENST00000378204.7:c.1280T>C MANE Select | ENSP00000367446.3:p.Leu427Pro |
| NM_000127.2:c.1280T>C , LRG_493t1:c.1280T>C | NP_000118.2:p.Leu427Pro |
| ENST00000378204.6:c.1280T>C | ENSP00000367446.2:p.Leu427Pro |
| ENST00000436216.2:c.703T>C | |
| ENST00000437196.1:c.*171T>C | ENSP00000407299.1:n.*171T>C |
| ENST00000684189.1:n.747T>C |