Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323761C>A , CM000667.2:g.159323761C>A | GRCh38 |
| NC_000005.9:g.158750769C>A , CM000667.1:g.158750769C>A | GRCh37 |
| NC_000005.8:g.158683347C>A | NCBI36 |
| NG_009618.1:g.11713G>T , LRG_71:g.11713G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002187.3:c.89-432G>T MANE Select | NP_002178.2:n.89-432G>T |
| ENST00000231228.3:c.89-432G>T MANE Select | ENSP00000231228.2:n.89-432G>T |
| NM_002187.2:c.89-432G>T , LRG_71t1:c.89-432G>T | NP_002178.2:n.89-432G>T |
| ENST00000231228.2:c.89-432G>T | ENSP00000231228.2:n.89-432G>T |
| ENST00000696750.1:c.-148-3241G>T | ENSP00000512849.1:n.-148-3241G>T |
| ENST00000696751.1:c.89-432G>T | ENSP00000512850.1:n.89-432G>T |
| XR_001742945.1:n.148-1773C>A |