Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159327108A>C , CM000667.2:g.159327108A>C | GRCh38 |
| NC_000005.9:g.158754116A>C , CM000667.1:g.158754116A>C | GRCh37 |
| NC_000005.8:g.158686694A>C | NCBI36 |
| NG_009618.1:g.8366T>G , LRG_71:g.8366T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-149+3324T>G | ENSP00000512849.1:n.-149+3324T>G | |
| ENST00000696751.1:c.1-326T>G | ENSP00000512850.1:n.1-326T>G | |
| ENST00000696752.1:n.433-326T>G | ||
| ENST00000231228.3:c.1-326T>G MANE Select | ENSP00000231228.2:n.1-326T>G | |
| ENST00000231228.2:c.1-326T>G | ENSP00000231228.2:n.1-326T>G | |
| NM_002187.2:c.1-326T>G , LRG_71t1:c.1-326T>G | NP_002178.2:n.1-326T>G | |
| NM_002187.3:c.1-326T>G MANE Select | NP_002178.2:n.1-326T>G |