Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159315942T>G , CM000667.2:g.159315942T>G | GRCh38 |
| NC_000005.9:g.158742950T>G , CM000667.1:g.158742950T>G | GRCh37 |
| NC_000005.8:g.158675528T>G | NCBI36 |
| NG_009618.1:g.19532A>C , LRG_71:g.19532A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002187.3:c.*159A>C MANE Select | NP_002178.2:n.*159A>C |
| ENST00000231228.3:c.*159A>C MANE Select | ENSP00000231228.2:n.*159A>C |
| NM_002187.2:c.*159A>C , LRG_71t1:c.*159A>C | NP_002178.2:n.*159A>C |
| ENST00000231228.2:c.*159A>C | ENSP00000231228.2:n.*159A>C |
| ENST00000696750.1:c.*159A>C | ENSP00000512849.1:n.*159A>C |
| ENST00000696751.1:c.*641A>C | ENSP00000512850.1:n.*641A>C |