Linked Data
ClinVar Variation Id:
376951
ClinVar RCV Id:
RCV000431423
dbSNP Id:
rs41291886
ExAC:
10:111872643 T / C
gnomAD v2:
10-111872643-T-C
gnomAD v3:
10-110112885-T-C
gnomAD v4:
10-110112885-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110112885T>C , CM000672.2:g.110112885T>C | GRCh38 |
| NC_000010.10:g.111872643T>C , CM000672.1:g.111872643T>C | GRCh37 |
| NC_000010.9:g.111862633T>C | NCBI36 |
| NG_051033.1:g.121536T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356080.9:c.304T>C MANE Select | ENSP00000348381.4:p.Ser102Pro | |
| ENST00000277900.12:c.304T>C | ENSP00000277900.8:p.Ser102Pro | |
| ENST00000356080.8:c.304T>C | ENSP00000348381.4:p.Ser102Pro | |
| ENST00000360162.7:c.304T>C | ENSP00000353286.3:p.Ser102Pro | |
| ENST00000468251.5:n.412T>C | ||
| ENST00000468345.1:n.447T>C | ||
| ENST00000473669.5:n.505T>C | ||
| ENST00000475954.5:n.381T>C | ||
| ENST00000484622.5:n.201T>C | ||
| ENST00000486014.1:n.111-9328T>C | ||
| ENST00000487085.5:n.694T>C | ||
| ENST00000495661.5:n.548T>C | ||
| ENST00000496517.5:n.519T>C | ||
| ENST00000497125.5:n.456T>C | ||
| ENST00000611329.1:c.304T>C | ENSP00000480646.1:p.Ser102Pro | |
| NM_001121.2:c.304T>C | NP_001112.2:p.Ser102Pro | |
| NM_016824.3:c.304T>C | NP_058432.1:p.Ser102Pro | |
| NM_019903.3:c.304T>C | NP_063968.1:p.Ser102Pro | |
| XM_005269529.1:c.304T>C | XP_005269586.1:p.Ser102Pro | |
| XM_005269530.1:c.304T>C | XP_005269587.1:p.Ser102Pro | |
| XM_005269531.3:c.304T>C | XP_005269588.1:p.Ser102Pro | |
| XM_005269533.1:c.304T>C | XP_005269590.1:p.Ser102Pro | |
| XM_005269534.3:c.304T>C | XP_005269591.1:p.Ser102Pro | |
| XM_005269535.1:c.70T>C | XP_005269592.1:p.Ser24Pro | |
| XM_006717626.1:c.304T>C | XP_006717689.1:p.Ser102Pro | |
| XM_006717627.1:c.304T>C | XP_006717690.1:p.Ser102Pro | |
| XM_006717628.2:c.304T>C | XP_006717691.1:p.Ser102Pro | |
| XM_006717629.1:c.70T>C | XP_006717692.1:p.Ser24Pro | |
| XM_011539287.1:c.304T>C | XP_011537589.1:p.Ser102Pro | |
| XM_011539288.1:c.304T>C | XP_011537590.1:p.Ser102Pro | |
| XM_011539289.1:c.-271T>C | XP_011537591.1:n.-271T>C | |
| XM_011539290.1:c.-271T>C | XP_011537592.1:n.-271T>C | |
| NM_001121.3:c.304T>C | NP_001112.2:p.Ser102Pro | |
| NM_001320591.1:c.304T>C | NP_001307520.1:p.Ser102Pro | |
| NM_001320592.1:c.304T>C | NP_001307521.1:p.Ser102Pro | |
| NM_001320593.1:c.304T>C | NP_001307522.1:p.Ser102Pro | |
| NM_001320594.1:c.70T>C | NP_001307523.1:p.Ser24Pro | |
| NM_016824.4:c.304T>C | NP_058432.1:p.Ser102Pro | |
| NM_019903.4:c.304T>C | NP_063968.1:p.Ser102Pro | |
| XM_024447794.1:c.304T>C | XP_024303562.1:p.Ser102Pro | |
| XM_024447795.1:c.304T>C | XP_024303563.1:p.Ser102Pro | |
| XM_024447796.1:c.304T>C | XP_024303564.1:p.Ser102Pro | |
| XM_024447797.1:c.304T>C | XP_024303565.1:p.Ser102Pro | |
| XM_024447798.1:c.304T>C | XP_024303566.1:p.Ser102Pro | |
| XM_024447799.1:c.304T>C | XP_024303567.1:p.Ser102Pro | |
| XM_024447800.1:c.304T>C | XP_024303568.1:p.Ser102Pro | |
| XM_024447801.1:c.304T>C | XP_024303569.1:p.Ser102Pro | |
| XM_024447802.1:c.304T>C | XP_024303570.1:p.Ser102Pro | |
| XM_024447803.1:c.304T>C | XP_024303571.1:p.Ser102Pro | |
| XM_024447804.1:c.304T>C | XP_024303572.1:p.Ser102Pro | |
| XM_024447805.1:c.304T>C | XP_024303573.1:p.Ser102Pro | |
| XM_024447806.1:c.304T>C | XP_024303574.1:p.Ser102Pro | |
| XM_024447807.1:c.304T>C | XP_024303575.1:p.Ser102Pro | |
| XM_024447808.1:c.70T>C | XP_024303576.1:p.Ser24Pro | |
| XM_024447809.1:c.70T>C | XP_024303577.1:p.Ser24Pro | |
| XM_024447810.1:c.70T>C | XP_024303578.1:p.Ser24Pro | |
| XM_024447811.1:c.-271T>C | XP_024303579.1:n.-271T>C | |
| XM_024447812.1:c.-271T>C | XP_024303580.1:n.-271T>C | |
| XM_024447813.1:c.-745T>C | XP_024303581.1:n.-745T>C | |
| XM_024447814.1:c.-745T>C | XP_024303582.1:n.-745T>C | |
| NM_001121.4:c.304T>C | NP_001112.2:p.Ser102Pro | |
| NM_001320591.2:c.304T>C | NP_001307520.1:p.Ser102Pro | |
| NM_001320592.2:c.304T>C | NP_001307521.1:p.Ser102Pro | |
| NM_001320593.2:c.304T>C | NP_001307522.1:p.Ser102Pro | |
| NM_001320594.2:c.70T>C | NP_001307523.1:p.Ser24Pro | |
| NM_016824.5:c.304T>C MANE Select | NP_058432.1:p.Ser102Pro | |
| NM_019903.5:c.304T>C | NP_063968.1:p.Ser102Pro |