Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159327187C>G , CM000667.2:g.159327187C>G | GRCh38 |
| NC_000005.9:g.158754195C>G , CM000667.1:g.158754195C>G | GRCh37 |
| NC_000005.8:g.158686773C>G | NCBI36 |
| NG_009618.1:g.8287G>C , LRG_71:g.8287G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002187.3:c.1-405G>C MANE Select | NP_002178.2:n.1-405G>C |
| ENST00000231228.3:c.1-405G>C MANE Select | ENSP00000231228.2:n.1-405G>C |
| NM_002187.2:c.1-405G>C , LRG_71t1:c.1-405G>C | NP_002178.2:n.1-405G>C |
| ENST00000231228.2:c.1-405G>C | ENSP00000231228.2:n.1-405G>C |
| ENST00000696750.1:c.-149+3245G>C | ENSP00000512849.1:n.-149+3245G>C |
| ENST00000696751.1:c.1-405G>C | ENSP00000512850.1:n.1-405G>C |
| ENST00000696752.1:n.433-405G>C |