Linked Data
ClinVar Variation Id:
502551
dbSNP Id:
rs115265574
ExAC:
10:100195449 C / T
gnomAD v2:
10-100195449-C-T
gnomAD v3:
10-98435692-C-T
gnomAD v4:
10-98435692-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98435692C>T , CM000672.2:g.98435692C>T | GRCh38 |
| NC_000010.10:g.100195449C>T , CM000672.1:g.100195449C>T | GRCh37 |
| NC_000010.9:g.100185439C>T | NCBI36 |
| NG_009646.1:g.16256G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000414009.2:c.198G>A | ENSP00000392462.2:p.Ser66= | |
| ENST00000699112.1:c.198G>A | ENSP00000514137.1:p.Ser66= | |
| ENST00000699113.1:c.198G>A | ENSP00000514138.1:p.Ser66= | |
| ENST00000699114.1:n.445G>A | ||
| ENST00000699115.1:c.198G>A | ENSP00000514139.1:p.Ser66= | |
| ENST00000699118.1:c.198G>A | ENSP00000514140.1:p.Ser66= | |
| ENST00000699119.1:c.198G>A | ENSP00000514141.1:p.Ser66= | |
| ENST00000699120.1:c.24G>A | ENSP00000514142.1:p.Ser8= | |
| ENST00000699121.1:c.24G>A | ENSP00000514143.1:p.Ser8= | |
| ENST00000699122.1:c.198G>A | ENSP00000514144.1:p.Ser66= | |
| ENST00000699123.1:c.198G>A | ENSP00000514145.1:p.Ser66= | |
| ENST00000699124.1:n.431G>A | ||
| ENST00000699125.1:c.198G>A | ENSP00000514146.1:p.Ser66= | |
| ENST00000699126.1:n.441G>A | ||
| ENST00000699127.1:n.441G>A | ||
| ENST00000699128.1:c.198G>A | ENSP00000514147.1:p.Ser66= | |
| ENST00000699129.1:c.198G>A | ENSP00000514148.1:p.Ser66= | |
| ENST00000699130.1:n.441G>A | ||
| ENST00000699131.1:c.198G>A | ENSP00000514149.1:p.Ser66= | |
| ENST00000699132.1:n.441G>A | ||
| ENST00000699133.1:c.198G>A | ENSP00000514150.1:p.Ser66= | |
| ENST00000699134.1:c.198G>A | ENSP00000514151.1:p.Ser66= | |
| ENST00000699135.1:c.198G>A | ENSP00000514152.1:p.Ser66= | |
| ENST00000699136.1:c.198G>A | ENSP00000514153.1:p.Ser66= | |
| ENST00000699137.1:c.198G>A | ENSP00000514154.1:p.Ser66= | |
| ENST00000699138.1:c.198G>A | ENSP00000514155.1:p.Ser66= | |
| ENST00000699139.1:c.198G>A | ENSP00000514156.1:p.Ser66= | |
| ENST00000699140.1:c.198G>A | ENSP00000514157.1:p.Ser66= | |
| ENST00000699141.1:c.198G>A | ENSP00000514158.1:p.Ser66= | |
| ENST00000699142.1:c.198G>A | ENSP00000514159.1:p.Ser66= | |
| ENST00000699143.1:c.198G>A | ENSP00000514160.1:p.Ser66= | |
| ENST00000699144.1:c.198G>A | ENSP00000514161.1:p.Ser66= | |
| ENST00000699145.1:c.198G>A | ENSP00000514162.1:p.Ser66= | |
| ENST00000699146.1:c.198G>A | ENSP00000514164.1:p.Ser66= | |
| ENST00000699147.1:c.198G>A | ENSP00000514165.1:p.Ser66= | |
| ENST00000699149.1:n.441G>A | ||
| ENST00000699150.1:n.423G>A | ||
| ENST00000699151.1:n.441G>A | ||
| ENST00000699152.1:n.423G>A | ||
| ENST00000699153.1:c.198G>A | ENSP00000514166.1:p.Ser66= | |
| ENST00000699154.1:n.423G>A | ||
| ENST00000699155.1:n.341G>A | ||
| ENST00000699156.1:n.389G>A | ||
| ENST00000699159.1:c.198G>A | ENSP00000514167.1:p.Ser66= | |
| ENST00000361490.9:c.198G>A MANE Select | ENSP00000355310.4:p.Ser66= | |
| ENST00000325103.10:c.198G>A | ENSP00000326649.6:p.Ser66= | |
| ENST00000338546.9:c.198G>A | ENSP00000343638.5:p.Ser66= | |
| ENST00000361490.8:c.198G>A | ENSP00000355310.4:p.Ser66= | |
| ENST00000467246.5:n.393G>A | ||
| ENST00000474873.5:n.312G>A | ||
| ENST00000480020.5:n.368G>A | ||
| ENST00000498219.5:n.379G>A | ||
| ENST00000613394.4:c.198G>A | ENSP00000477926.1:p.Ser66= | |
| NM_000195.3:c.198G>A | NP_000186.2:p.Ser66= | |
| NM_000195.4:c.198G>A | NP_000186.2:p.Ser66= | |
| NM_001311345.1:c.-719G>A | NP_001298274.1:n.-719G>A | |
| NM_182639.2:c.198G>A | NP_872577.1:p.Ser66= | |
| NM_182639.3:c.198G>A | NP_872577.1:p.Ser66= | |
| XM_005269755.2:c.198G>A | XP_005269812.1:p.Ser66= | |
| XM_005269756.2:c.198G>A | XP_005269813.1:p.Ser66= | |
| XM_005269757.3:c.198G>A | XP_005269814.1:p.Ser66= | |
| XM_005269758.1:c.198G>A | XP_005269815.1:p.Ser66= | |
| XM_005269759.1:c.-29G>A | XP_005269816.1:n.-29G>A | |
| XM_005269760.3:c.-719G>A | XP_005269817.1:n.-719G>A | |
| XM_005269761.1:c.-576G>A | XP_005269818.1:n.-576G>A | |
| XM_006717818.1:c.198G>A | XP_006717881.1:p.Ser66= | |
| NM_001322476.1:c.198G>A | NP_001309405.1:p.Ser66= | |
| NM_001322477.1:c.198G>A | NP_001309406.1:p.Ser66= | |
| NM_001322478.1:c.198G>A | NP_001309407.1:p.Ser66= | |
| NM_001322479.1:c.198G>A | NP_001309408.1:p.Ser66= | |
| NM_001322480.1:c.198G>A | NP_001309409.1:p.Ser66= | |
| NM_001322481.1:c.198G>A | NP_001309410.1:p.Ser66= | |
| NM_001322482.1:c.198G>A | NP_001309411.1:p.Ser66= | |
| NM_001322483.1:c.-29G>A | NP_001309412.1:n.-29G>A | |
| NM_001322484.1:c.-29G>A | NP_001309413.1:n.-29G>A | |
| NM_001322485.1:c.-29G>A | NP_001309414.1:n.-29G>A | |
| NM_001322487.1:c.-818G>A | NP_001309416.1:n.-818G>A | |
| NM_001322489.1:c.-576G>A | NP_001309418.1:n.-576G>A | |
| NM_001322490.1:c.198G>A | NP_001309419.1:p.Ser66= | |
| NM_001322491.1:c.198G>A | NP_001309420.1:p.Ser66= | |
| NM_001322492.1:c.198G>A | NP_001309421.1:p.Ser66= | |
| XM_005269757.4:c.198G>A | XP_005269814.1:p.Ser66= | |
| XM_017016170.1:c.198G>A | XP_016871659.1:p.Ser66= | |
| XM_017016171.2:c.-29G>A | XP_016871660.1:n.-29G>A | |
| XM_017016172.2:c.-372G>A | XP_016871661.1:n.-372G>A | |
| XM_017016173.1:c.198G>A | XP_016871662.1:p.Ser66= | |
| XM_024447971.1:c.198G>A | XP_024303739.1:p.Ser66= | |
| XM_024447972.1:c.-675G>A | XP_024303740.1:n.-675G>A | |
| XR_001747098.1:n.467G>A | ||
| XR_001747099.2:n.467G>A | ||
| XR_001747100.2:n.467G>A | ||
| XR_001747101.2:n.467G>A | ||
| NM_000195.5:c.198G>A MANE Select | NP_000186.2:p.Ser66= | |
| NM_001311345.2:c.-719G>A | NP_001298274.1:n.-719G>A | |
| NM_001322476.2:c.198G>A | NP_001309405.1:p.Ser66= | |
| NM_001322477.2:c.198G>A | NP_001309406.1:p.Ser66= | |
| NM_001322478.2:c.198G>A | NP_001309407.1:p.Ser66= | |
| NM_001322479.2:c.198G>A | NP_001309408.1:p.Ser66= | |
| NM_001322480.2:c.198G>A | NP_001309409.1:p.Ser66= | |
| NM_001322481.2:c.198G>A | NP_001309410.1:p.Ser66= | |
| NM_001322482.2:c.198G>A | NP_001309411.1:p.Ser66= | |
| NM_001322483.2:c.-29G>A | NP_001309412.1:n.-29G>A | |
| NM_001322484.2:c.-29G>A | NP_001309413.1:n.-29G>A | |
| NM_001322485.2:c.-29G>A | NP_001309414.1:n.-29G>A | |
| NM_001322487.2:c.-818G>A | NP_001309416.1:n.-818G>A | |
| NM_001322489.2:c.-576G>A | NP_001309418.1:n.-576G>A | |
| NM_001322490.2:c.198G>A | NP_001309419.1:p.Ser66= | |
| NM_001322491.2:c.198G>A | NP_001309420.1:p.Ser66= | |
| NM_001322492.2:c.198G>A | NP_001309421.1:p.Ser66= | |
| NM_182639.4:c.198G>A | NP_872577.1:p.Ser66= |