Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028070A>G , CM000666.2:g.52028070A>G | GRCh38 |
| NC_000004.11:g.52894236A>G , CM000666.1:g.52894236A>G | GRCh37 |
| NC_000004.10:g.52588993A>G | NCBI36 |
| NG_008891.1:g.15250T>C , LRG_204:g.15250T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.651T>C MANE Select | ENSP00000370839.6:p.Asn217= | |
| ENST00000381431.9:c.651T>C | ENSP00000370839.5:p.Asn217= | |
| NM_000232.4:c.651T>C , LRG_204t1:c.651T>C | NP_000223.1:p.Asn217= | |
| XM_006714049.2:c.354T>C | XP_006714112.1:p.Asn118= | |
| XM_011534403.1:c.441T>C | XP_011532705.1:p.Asn147= | |
| XM_011534404.1:c.354T>C | XP_011532706.1:p.Asn118= | |
| NM_000232.5:c.651T>C MANE Select | NP_000223.1:p.Asn217= |