Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19249773T>G , CM000681.2:g.19249773T>G | GRCh38 |
| NC_000019.9:g.19360582T>G , CM000681.1:g.19360582T>G | GRCh37 |
| NC_000019.8:g.19221582T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252575.11:c.3828T>G MANE Select | ENSP00000252575.4:p.Arg1276= | |
| ENST00000252575.10:c.3828T>G | ENSP00000252575.4:p.Arg1276= | |
| ENST00000588231.1:c.389T>G | ||
| NM_004386.2:c.3828T>G | NP_004377.2:p.Arg1276= | |
| XM_005259747.1:c.2469T>G | XP_005259804.1:p.Arg823= | |
| NM_004386.3:c.3828T>G MANE Select | NP_004377.2:p.Arg1276= |