Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117804777A>T , CM000670.2:g.117804777A>T | GRCh38 |
| NC_000008.10:g.118817016A>T , CM000670.1:g.118817016A>T | GRCh37 |
| NC_000008.9:g.118886197A>T | NCBI36 |
| NG_007455.2:g.312043T>A , LRG_493:g.312043T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.1467T>A | ||
| ENST00000684443.1:n.2126T>A | ||
| ENST00000378204.7:c.2000T>A MANE Select | ENSP00000367446.3:p.Leu667Ter | |
| ENST00000378204.6:c.2000T>A | ENSP00000367446.2:p.Leu667Ter | |
| ENST00000437196.1:c.*891T>A | ENSP00000407299.1:n.*891T>A | |
| NM_000127.2:c.2000T>A , LRG_493t1:c.2000T>A | NP_000118.2:p.Leu667Ter | |
| NM_000127.3:c.2000T>A MANE Select | NP_000118.2:p.Leu667Ter |