Linked Data
ClinVar Variation Id:
43422
ClinVar RCV Id:
RCV000036339
RCV000312289
RCV000350673
RCV000777777
RCV001094326
RCV001705660
RCV002336122
dbSNP Id:
rs200173919
ExAC:
15:63353097 C / T
gnomAD v2:
15-63353097-C-T
gnomAD v3:
15-63060898-C-T
gnomAD v4:
15-63060898-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63060898C>T , CM000677.2:g.63060898C>T | GRCh38 |
| NC_000015.9:g.63353097C>T , CM000677.1:g.63353097C>T | GRCh37 |
| NC_000015.8:g.61140150C>T | NCBI36 |
| NG_007557.1:g.23260C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558868.6:n.532C>T | ||
| ENST00000559831.6:c.522C>T | ENSP00000452977.2:p.Ser174= | |
| ENST00000560131.2:n.594C>T | ||
| ENST00000560615.6:c.144C>T | ENSP00000453050.2:p.Ser48= | |
| ENST00000561395.6:c.451-815C>T | ENSP00000453092.2:n.451-815C>T | |
| ENST00000651622.2:c.414C>T | ENSP00000498540.2:p.Ser138= | |
| ENST00000705544.1:c.209C>T | ||
| ENST00000317516.12:c.414C>T | ENSP00000322577.7:p.Ser138= | |
| ENST00000334895.10:c.414C>T | ENSP00000334624.4:p.Ser138= | |
| ENST00000357980.9:c.648C>T | ENSP00000350667.4:p.Ser216= | |
| ENST00000403994.9:c.522C>T MANE Select | ENSP00000385107.4:p.Ser174= | |
| ENST00000404484.9:c.414C>T | ENSP00000384315.4:p.Ser138= | |
| ENST00000558910.3:c.414C>T | ENSP00000452830.2:p.Ser138= | |
| ENST00000559281.6:c.414C>T | ENSP00000452658.1:p.Ser138= | |
| ENST00000559397.6:c.522C>T | ENSP00000452879.1:p.Ser174= | |
| ENST00000560970.6:c.522C>T | ENSP00000453062.2:p.Ser174= | |
| ENST00000561266.6:c.522C>T | ENSP00000453955.2:p.Ser174= | |
| ENST00000644204.1:n.468C>T | ||
| ENST00000651344.1:n.704C>T | ||
| ENST00000651577.1:c.144C>T | ENSP00000498730.1:p.Ser48= | |
| ENST00000651590.1:c.414C>T | ENSP00000498284.1:p.Ser138= | |
| ENST00000651704.1:c.144C>T | ENSP00000498562.1:p.Ser48= | |
| ENST00000267996.11:c.522C>T | ENSP00000267996.7:p.Ser174= | |
| ENST00000288398.10:c.522C>T | ENSP00000288398.6:p.Ser174= | |
| ENST00000317516.11:c.414C>T | ENSP00000322577.7:p.Ser138= | |
| ENST00000334895.9:c.414C>T | ENSP00000334624.4:p.Ser138= | |
| ENST00000357980.8:c.648C>T | ENSP00000350667.4:p.Ser216= | |
| ENST00000358278.7:c.522C>T | ENSP00000351022.3:p.Ser174= | |
| ENST00000403994.7:c.522C>T | ENSP00000385107.3:p.Ser174= | |
| ENST00000404484.8:c.414C>T | ENSP00000384315.4:p.Ser138= | |
| ENST00000558264.5:c.144C>T | ENSP00000452624.1:p.Ser48= | |
| ENST00000558314.5:n.922C>T | ||
| ENST00000558347.5:c.404C>T | ENSP00000452887.1:p.Ala135Val | |
| ENST00000558544.5:c.*130C>T | ENSP00000453817.1:n.*130C>T | |
| ENST00000558868.5:n.453C>T | ||
| ENST00000559281.5:c.414C>T | ENSP00000452658.1:p.Ser138= | |
| ENST00000559397.5:c.522C>T | ENSP00000452879.1:p.Ser174= | |
| ENST00000559556.5:c.522C>T | ENSP00000453941.1:p.Ser174= | |
| ENST00000559831.5:c.294C>T | ENSP00000452977.1:p.Ser98= | |
| ENST00000560445.1:c.187-5063C>T | ENSP00000452999.1:n.187-5063C>T | |
| ENST00000560615.5:c.144C>T | ENSP00000453050.1:p.Ser48= | |
| ENST00000560959.5:c.414C>T | ENSP00000453724.1:p.Ser138= | |
| ENST00000560970.5:c.464C>T | ||
| ENST00000560975.5:n.1430C>T | ||
| ENST00000561266.5:c.338C>T | ||
| ENST00000561395.5:c.190-815C>T | ENSP00000453092.1:n.190-815C>T | |
| NM_000366.5:c.522C>T | NP_000357.3:p.Ser174= | |
| NM_001018004.1:c.522C>T | NP_001018004.1:p.Ser174= | |
| NM_001018005.1:c.522C>T | NP_001018005.1:p.Ser174= | |
| NM_001018006.1:c.522C>T | NP_001018006.1:p.Ser174= | |
| NM_001018007.1:c.522C>T | NP_001018007.1:p.Ser174= | |
| NM_001018008.1:c.414C>T | NP_001018008.1:p.Ser138= | |
| NM_001018020.1:c.522C>T | NP_001018020.1:p.Ser174= | |
| NM_001301244.1:c.522C>T | NP_001288173.1:p.Ser174= | |
| NM_001301289.1:c.414C>T | NP_001288218.1:p.Ser138= | |
| XM_005254637.1:c.648C>T | XP_005254694.1:p.Ser216= | |
| XM_005254638.2:c.522C>T | XP_005254695.1:p.Ser174= | |
| XM_005254639.2:c.522C>T | XP_005254696.1:p.Ser174= | |
| XM_005254640.2:c.522C>T | XP_005254697.1:p.Ser174= | |
| XM_005254641.2:c.522C>T | XP_005254698.1:p.Ser174= | |
| XM_005254645.1:c.522C>T | XP_005254702.1:p.Ser174= | |
| XM_005254646.1:c.414C>T | XP_005254703.1:p.Ser138= | |
| XM_005254647.2:c.414C>T | XP_005254704.1:p.Ser138= | |
| XM_005254648.1:c.414C>T | XP_005254705.1:p.Ser138= | |
| XM_005254650.2:c.414C>T | XP_005254707.1:p.Ser138= | |
| XM_005254651.1:c.414C>T | XP_005254708.1:p.Ser138= | |
| XM_005254652.1:c.414C>T | XP_005254709.1:p.Ser138= | |
| XM_005254653.1:c.414C>T | XP_005254710.1:p.Ser138= | |
| XM_006720667.2:c.522C>T | XP_006720730.1:p.Ser174= | |
| XM_006720669.2:c.144C>T | XP_006720732.1:p.Ser48= | |
| NM_001330344.1:c.414C>T | NP_001317273.1:p.Ser138= | |
| NM_001330346.1:c.414C>T | NP_001317275.1:p.Ser138= | |
| NM_001330351.1:c.414C>T | NP_001317280.1:p.Ser138= | |
| NM_001365776.1:c.522C>T | NP_001352705.1:p.Ser174= | |
| NM_001365777.1:c.522C>T | NP_001352706.1:p.Ser174= | |
| NM_001365778.1:c.648C>T | NP_001352707.1:p.Ser216= | |
| NM_001365779.1:c.522C>T | NP_001352708.1:p.Ser174= | |
| NM_001365780.1:c.414C>T | NP_001352709.1:p.Ser138= | |
| NM_001365781.1:c.414C>T | NP_001352710.1:p.Ser138= | |
| NM_001365782.1:c.414C>T | NP_001352711.1:p.Ser138= | |
| XM_005254639.4:c.522C>T | XP_005254696.3:p.Ser174= | |
| XM_005254646.2:c.414C>T | XP_005254703.1:p.Ser138= | |
| XM_005254650.3:c.414C>T | XP_005254707.1:p.Ser138= | |
| XM_006720667.4:c.522C>T | XP_006720730.3:p.Ser174= | |
| XM_017022534.2:c.522C>T | XP_016878023.2:p.Ser174= | |
| XM_017022535.2:c.522C>T | XP_016878024.1:p.Ser174= | |
| XM_017022536.2:c.522C>T | XP_016878025.2:p.Ser174= | |
| XM_017022537.2:c.522C>T | XP_016878026.1:p.Ser174= | |
| XM_017022538.2:c.522C>T | XP_016878027.2:p.Ser174= | |
| XM_017022539.2:c.522C>T | XP_016878028.2:p.Ser174= | |
| XM_017022540.1:c.414C>T | XP_016878029.1:p.Ser138= | |
| XM_024450040.1:c.144C>T | XP_024305808.1:p.Ser48= | |
| XR_002957675.1:n.539C>T | ||
| NM_000366.6:c.522C>T | NP_000357.3:p.Ser174= | |
| NM_001018004.2:c.522C>T | NP_001018004.1:p.Ser174= | |
| NM_001018005.2:c.522C>T MANE Select | NP_001018005.1:p.Ser174= | |
| NM_001018006.2:c.522C>T | NP_001018006.1:p.Ser174= | |
| NM_001018007.2:c.522C>T | NP_001018007.1:p.Ser174= | |
| NM_001018008.2:c.414C>T | NP_001018008.1:p.Ser138= | |
| NM_001018020.2:c.522C>T | NP_001018020.1:p.Ser174= | |
| NM_001301244.2:c.522C>T | NP_001288173.1:p.Ser174= | |
| NM_001301289.2:c.414C>T | NP_001288218.1:p.Ser138= | |
| NM_001330344.2:c.414C>T | NP_001317273.1:p.Ser138= | |
| NM_001330346.2:c.414C>T | NP_001317275.1:p.Ser138= | |
| NM_001330351.2:c.414C>T | NP_001317280.1:p.Ser138= | |
| NM_001365781.2:c.414C>T | NP_001352710.1:p.Ser138= |