Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320263A>T , CM000667.2:g.159320263A>T | GRCh38 |
| NC_000005.9:g.158747271A>T , CM000667.1:g.158747271A>T | GRCh37 |
| NC_000005.8:g.158679849A>T | NCBI36 |
| NG_009618.1:g.15211T>A , LRG_71:g.15211T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.67+43T>A | ENSP00000512849.1:n.67+43T>A | |
| ENST00000696751.1:c.*192+43T>A | ENSP00000512850.1:n.*192+43T>A | |
| ENST00000231228.3:c.697+43T>A MANE Select | ENSP00000231228.2:n.697+43T>A | |
| ENST00000231228.2:c.697+43T>A | ENSP00000231228.2:n.697+43T>A | |
| NM_002187.2:c.697+43T>A , LRG_71t1:c.697+43T>A | NP_002178.2:n.697+43T>A | |
| NM_002187.3:c.697+43T>A MANE Select | NP_002178.2:n.697+43T>A |