Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48379624C>A , CM000675.2:g.48379624C>A | GRCh38 |
| NC_000013.10:g.48953760C>A , CM000675.1:g.48953760C>A | GRCh37 |
| NC_000013.9:g.47851761C>A | NCBI36 |
| NG_009009.1:g.80878C>A , LRG_517:g.80878C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1363C>A MANE Select | ENSP00000267163.4:p.Arg455= | |
| ENST00000650461.1:c.1363C>A | ENSP00000497193.1:p.Arg455= | |
| ENST00000267163.4:c.1363C>A | ENSP00000267163.4:p.Arg455= | |
| NM_000321.2:c.1363C>A , LRG_517t1:c.1363C>A | NP_000312.2:p.Arg455= | |
| XM_011535171.1:c.1102C>A | XP_011533473.1:p.Arg368= | |
| XM_011535171.2:c.1102C>A | XP_011533473.1:p.Arg368= | |
| XR_002957522.1:n.40+211G>T | ||
| NM_000321.3:c.1363C>A MANE Select | NP_000312.2:p.Arg455= |