Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23886484A>T , CM000675.2:g.23886484A>T | GRCh38 |
| NC_000013.10:g.24460623A>T , CM000675.1:g.24460623A>T | GRCh37 |
| NC_000013.9:g.23358623A>T | NCBI36 |
| NG_052977.1:g.7965T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382172.4:c.212T>A MANE Select | ENSP00000371607.3:p.Leu71Gln | |
| ENST00000382172.3:c.212T>A | ENSP00000371607.3:p.Leu71Gln | |
| ENST00000469167.1:n.744T>A | ||
| NM_005932.3:c.212T>A | NP_005923.2:p.Leu71Gln | |
| XM_011535097.1:c.26T>A | XP_011533399.1:p.Leu9Gln | |
| XM_011535098.1:c.212T>A | XP_011533400.1:p.Leu71Gln | |
| XM_011535097.2:c.26T>A | XP_011533399.1:p.Leu9Gln | |
| XM_011535098.3:c.212T>A | XP_011533400.1:p.Leu71Gln | |
| NM_005932.4:c.212T>A MANE Select | NP_005923.3:p.Leu71Gln |