ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55015000C>T , CM000685.2:g.55015000C>T | GRCh38 |
| NC_000023.10:g.55041433C>T , CM000685.1:g.55041433C>T | GRCh37 |
| NC_000023.9:g.55058158C>T | NCBI36 |
| NG_008983.1:g.21065G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650242.1:c.1184G>A MANE Select | ENSP00000497236.1:p.Cys395Tyr | |
| ENST00000330807.9:c.1184G>A | ENSP00000332369.5:p.Cys395Tyr | |
| ENST00000335854.8:c.1073G>A | ENSP00000337131.4:p.Cys358Tyr | |
| ENST00000396198.7:c.1145G>A | ENSP00000379501.3:p.Cys382Tyr | |
| ENST00000498636.1:n.475G>A | ||
| NM_000032.4:c.1184G>A | NP_000023.2:p.Cys395Tyr | |
| NM_001037967.3:c.1073G>A | NP_001033056.1:p.Cys358Tyr | |
| NM_001037968.3:c.1145G>A | NP_001033057.1:p.Cys382Tyr | |
| XM_005261995.2:c.1256G>A | XP_005262052.1:p.Cys419Tyr | |
| XM_011530771.1:c.323G>A | XP_011529073.1:p.Cys108Tyr | |
| NM_000032.5:c.1184G>A MANE Select | NP_000023.2:p.Cys395Tyr | |
| NM_001037967.4:c.1073G>A | NP_001033056.1:p.Cys358Tyr | |
| NM_001037968.4:c.1145G>A | NP_001033057.1:p.Cys382Tyr |