Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13192567C>T , CM000672.2:g.13192567C>T | GRCh38 |
| NC_000010.10:g.13234567C>T , CM000672.1:g.13234567C>T | GRCh37 |
| NC_000010.9:g.13274573C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378714.8:c.1744C>T MANE Select | ENSP00000367986.3:p.Arg582Ter | |
| ENST00000378694.1:c.1744C>T | ENSP00000367966.1:p.Arg582Ter | |
| ENST00000378714.7:c.1744C>T | ENSP00000367986.3:p.Arg582Ter | |
| ENST00000459751.1:n.77C>T | ||
| ENST00000484800.6:c.1747C>T | ENSP00000418268.1:p.Arg583Ter | |
| NM_018518.4:c.1744C>T | NP_060988.3:p.Arg582Ter | |
| NM_182751.2:c.1747C>T | NP_877428.1:p.Arg583Ter | |
| XM_011519538.1:c.1747C>T | XP_011517840.1:p.Arg583Ter | |
| XM_011519538.2:c.1747C>T | XP_011517840.1:p.Arg583Ter | |
| NM_018518.5:c.1744C>T MANE Select | NP_060988.3:p.Arg582Ter | |
| NM_182751.3:c.1747C>T | NP_877428.1:p.Arg583Ter |