ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.85280412C>T , CM000674.2:g.85280412C>T | GRCh38 |
| NC_000012.11:g.85674190C>T , CM000674.1:g.85674190C>T | GRCh37 |
| NC_000012.10:g.84198321C>T | NCBI36 |
| NG_023202.1:g.5155C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316824.4:c.151C>T MANE Select | ENSP00000315417.3:p.Gln51Ter | |
| ENST00000316824.3:c.151C>T | ENSP00000315417.3:p.Gln51Ter | |
| NM_006982.2:c.151C>T | NP_008913.2:p.Gln51Ter | |
| XM_005269165.3:c.151C>T | XP_005269222.1:p.Gln51Ter | |
| XM_011538783.1:c.-60+469C>T | XP_011537085.1:n.-60+469C>T | |
| NM_006982.3:c.151C>T MANE Select | NP_008913.2:p.Gln51Ter |