Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716761G>C , CM000667.2:g.14716761G>C | GRCh38 |
| NC_000005.9:g.14716870G>C , CM000667.1:g.14716870G>C | GRCh37 |
| NC_000005.8:g.14769870G>C | NCBI36 |
| NG_008273.1:g.160018C>G | |
| NG_008273.2:g.160025C>G | |
| NG_051625.1:g.60968G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1086C>G MANE Select | ENSP00000284268.6:p.Ala362= | |
| ENST00000284268.6:c.1086C>G | ENSP00000284268.6:p.Ala362= | |
| ENST00000502585.1:n.328C>G | ||
| NM_054027.4:c.1086C>G | NP_473368.1:p.Ala362= | |
| NM_054027.5:c.1086C>G | NP_473368.1:p.Ala362= | |
| XM_017009644.2:c.1002C>G | XP_016865133.1:p.Ala334= | |
| NM_054027.6:c.1086C>G MANE Select | NP_473368.1:p.Ala362= |