Linked Data
ClinVar Variation Id:
2355772
ClinVar RCV Id:
RCV004195372
dbSNP Id:
rs148013275
ExAC:
2:190560942 C / T
gnomAD v2:
2-190560942-C-T
gnomAD v3:
2-189696216-C-T
gnomAD v4:
2-189696216-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189696216C>T , CM000664.2:g.189696216C>T | GRCh38 |
| NC_000002.11:g.190560942C>T , CM000664.1:g.190560942C>T | GRCh37 |
| NC_000002.10:g.190269187C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684021.1:c.1555C>T MANE Select | ENSP00000507233.1:p.Arg519Cys | |
| ENST00000313581.4:c.1555C>T | ENSP00000313513.4:p.Arg519Cys | |
| ENST00000433782.6:c.1342C>T | ENSP00000399928.2:p.Arg448Cys | |
| ENST00000441800.5:c.847C>T | ENSP00000407459.1:p.Arg283Cys | |
| ENST00000520309.5:c.1555C>T | ENSP00000427882.1:p.Arg519Cys | |
| NM_144708.3:c.1555C>T | NP_653309.3:p.Arg519Cys | |
| XM_011510673.1:c.1555C>T | XP_011508975.1:p.Arg519Cys | |
| XM_011510674.1:c.1555C>T | XP_011508976.1:p.Arg519Cys | |
| XM_011510675.1:c.1555C>T | XP_011508977.1:p.Arg519Cys | |
| XM_011510676.1:c.1555C>T | XP_011508978.1:p.Arg519Cys | |
| XM_011510677.1:c.1555C>T | XP_011508979.1:p.Arg519Cys | |
| XM_011510678.1:c.1555C>T | XP_011508980.1:p.Arg519Cys | |
| XM_011510679.1:c.1555C>T | XP_011508981.1:p.Arg519Cys | |
| XM_011510680.1:c.1555C>T | XP_011508982.1:p.Arg519Cys | |
| XM_011510681.1:c.1555C>T | XP_011508983.1:p.Arg519Cys | |
| XM_011510682.1:c.1555C>T | XP_011508984.1:p.Arg519Cys | |
| XM_011510683.1:c.1555C>T | XP_011508985.1:p.Arg519Cys | |
| XM_011510684.1:c.1555C>T | XP_011508986.1:p.Arg519Cys | |
| XM_011510685.1:c.1099C>T | XP_011508987.1:p.Arg367Cys | |
| XM_011510686.1:c.1555C>T | XP_011508988.1:p.Arg519Cys | |
| XM_011510687.1:c.847C>T | XP_011508989.1:p.Arg283Cys | |
| XM_011510688.1:c.1555C>T | XP_011508990.1:p.Arg519Cys | |
| XM_011510689.1:c.1555C>T | XP_011508991.1:p.Arg519Cys | |
| XM_011510690.1:c.1555C>T | XP_011508992.1:p.Arg519Cys | |
| XM_011510691.1:c.310C>T | XP_011508993.1:p.Arg104Cys | |
| XM_011510692.1:c.268C>T | XP_011508994.1:p.Arg90Cys | |
| XM_011510693.1:c.79C>T | XP_011508995.1:p.Arg27Cys | |
| XM_011510694.1:c.52C>T | XP_011508996.1:p.Arg18Cys | |
| XM_011510695.1:c.1555C>T | XP_011508997.1:p.Arg519Cys | |
| XR_922865.1:n.2129C>T | ||
| XR_922866.1:n.2129C>T | ||
| XR_922867.1:n.2129C>T | ||
| XR_922868.1:n.2129C>T | ||
| XR_922869.1:n.2129C>T | ||
| XM_011510673.2:c.1555C>T | XP_011508975.1:p.Arg519Cys | |
| XM_011510675.2:c.1555C>T | XP_011508977.1:p.Arg519Cys | |
| XM_011510676.2:c.1555C>T | XP_011508978.1:p.Arg519Cys | |
| XM_011510677.2:c.1555C>T | XP_011508979.1:p.Arg519Cys | |
| XM_011510679.2:c.1555C>T | XP_011508981.1:p.Arg519Cys | |
| XM_011510682.2:c.1555C>T | XP_011508984.1:p.Arg519Cys | |
| XM_011510685.2:c.1099C>T | XP_011508987.1:p.Arg367Cys | |
| XM_011510686.2:c.1555C>T | XP_011508988.1:p.Arg519Cys | |
| XM_011510687.2:c.847C>T | XP_011508989.1:p.Arg283Cys | |
| XM_011510689.3:c.1555C>T | XP_011508991.1:p.Arg519Cys | |
| XM_011510691.2:c.310C>T | XP_011508993.1:p.Arg104Cys | |
| XM_011510692.2:c.268C>T | XP_011508994.1:p.Arg90Cys | |
| XM_011510693.2:c.79C>T | XP_011508995.1:p.Arg27Cys | |
| XM_011510694.2:c.52C>T | XP_011508996.1:p.Arg18Cys | |
| XM_017003413.1:c.1555C>T | XP_016858902.1:p.Arg519Cys | |
| XM_017003414.2:c.1555C>T | XP_016858903.1:p.Arg519Cys | |
| XM_017003415.1:c.331+6252C>T | XP_016858904.1:n.331+6252C>T | |
| XM_017003416.1:c.52C>T | XP_016858905.1:p.Arg18Cys | |
| XM_017003417.1:c.1555C>T | XP_016858906.1:p.Arg519Cys | |
| XM_017003418.1:c.52C>T | XP_016858907.1:p.Arg18Cys | |
| XM_017003419.1:c.52C>T | XP_016858908.1:p.Arg18Cys | |
| XM_017003420.1:c.-365C>T | XP_016858909.1:n.-365C>T | |
| XM_024452718.1:c.1039+6252C>T | XP_024308486.1:n.1039+6252C>T | |
| XM_024452719.1:c.1555C>T | XP_024308487.1:p.Arg519Cys | |
| XR_001738640.1:n.2129C>T | ||
| XR_001738641.1:n.2129C>T | ||
| XR_001738642.1:n.2129C>T | ||
| XR_001738643.1:n.2129C>T | ||
| XR_001738644.1:n.2129C>T | ||
| XR_922865.2:n.2129C>T | ||
| NM_001378068.1:c.1555C>T MANE Select | NP_001364997.1:p.Arg519Cys |