Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8536611T>C , CM000685.2:g.8536611T>C | GRCh38 |
| NC_000023.10:g.8504652T>C , CM000685.1:g.8504652T>C | GRCh37 |
| NC_000023.9:g.8464652T>C | NCBI36 |
| NG_007088.1:g.200576A>G | |
| NG_007088.2:g.200576A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000216.4:c.1621+160A>G MANE Select | NP_000207.2:n.1621+160A>G |
| ENST00000262648.8:c.1621+160A>G MANE Select | ENSP00000262648.3:n.1621+160A>G |
| NM_000216.2:c.1621+160A>G | NP_000207.2:n.1621+160A>G |
| NM_000216.3:c.1621+160A>G | NP_000207.2:n.1621+160A>G |
| ENST00000262648.7:c.1621+160A>G | ENSP00000262648.3:n.1621+160A>G |
| ENST00000481896.1:n.166+160A>G | |
| ENST00000619786.1:c.1618+160A>G | ENSP00000478734.1:n.1618+160A>G |