gnomAD v2:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38322382C>T , CM000677.2:g.38322382C>T | GRCh38 |
| NC_000015.9:g.38614583C>T , CM000677.1:g.38614583C>T | GRCh37 |
| NC_000015.8:g.36401875C>T | NCBI36 |
| NG_008980.1:g.74532C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.349C>T MANE Select | ENSP00000299084.4:p.Arg117Ter | |
| ENST00000299084.8:c.349C>T | ENSP00000299084.4:p.Arg117Ter | |
| ENST00000561205.1:n.687C>T | ||
| ENST00000561317.1:c.286C>T | ENSP00000453680.1:p.Arg96Ter | |
| NM_152594.2:c.349C>T | NP_689807.1:p.Arg117Ter | |
| XM_005254202.2:c.385C>T | XP_005254259.1:p.Arg129Ter | |
| XM_005254203.3:c.127C>T | XP_005254260.1:p.Arg43Ter | |
| XM_011521288.1:c.286C>T | XP_011519590.1:p.Arg96Ter | |
| XM_011521289.1:c.286C>T | XP_011519591.1:p.Arg96Ter | |
| XM_011521290.1:c.286C>T | XP_011519592.1:p.Arg96Ter | |
| XM_005254202.3:c.385C>T | XP_005254259.1:p.Arg129Ter | |
| XM_011521289.3:c.286C>T | XP_011519591.1:p.Arg96Ter | |
| NM_152594.3:c.349C>T MANE Select | NP_689807.1:p.Arg117Ter |