Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459724G= , CM000675.2:g.48459724G= | GRCh38 |
| NC_000013.10:g.49033860G= , CM000675.1:g.49033860G= | GRCh37 |
| NC_000013.9:g.47931861G= | NCBI36 |
| NG_009009.1:g.160978G= , LRG_517:g.160978G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1997G= MANE Select | ENSP00000267163.4:p.Cys666= | |
| ENST00000643064.1:c.194+78281G= | ||
| ENST00000650461.1:c.1997G= | ENSP00000497193.1:p.Cys666= | |
| ENST00000267163.4:c.1997G= | ENSP00000267163.4:p.Cys666= | |
| NM_000321.2:c.1997G= , LRG_517t1:c.1997G= | NP_000312.2:p.Cys666= | |
| XM_011535171.1:c.1736G= | XP_011533473.1:p.Cys579= | |
| XM_011535171.2:c.1736G= | XP_011533473.1:p.Cys579= | |
| NM_000321.3:c.1997G= MANE Select | NP_000312.2:p.Cys666= |