Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128289206T>C , CM000667.2:g.128289206T>C | GRCh38 |
| NC_000005.9:g.127624898T>C , CM000667.1:g.127624898T>C | GRCh37 |
| NC_000005.8:g.127652797T>C | NCBI36 |
| NG_008750.1:g.253838A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.6558A>G MANE Select | NP_001990.2:p.Gln2186= |
| ENST00000262464.9:c.6558A>G MANE Select | ENSP00000262464.4:p.Gln2186= |
| NM_001999.3:c.6558A>G | NP_001990.2:p.Gln2186= |
| ENST00000262464.8:c.6558A>G | ENSP00000262464.4:p.Gln2186= |
| ENST00000508053.5:c.6558A>G | ENSP00000424571.1:p.Gln2186= |
| ENST00000619499.4:c.6555A>G | ENSP00000482132.1:p.Gln2185= |
| ENST00000703783.1:n.3342A>G | |
| ENST00000703785.1:n.3261A>G | |
| XM_017009228.2:c.6405A>G | XP_016864717.1:p.Gln2135= |