Linked Data
ClinVar Variation Id:
36729
dbSNP Id:
rs138073811
ExAC:
1:237875068 C / T
gnomAD v2:
1-237875068-C-T
gnomAD v3:
1-237711768-C-T
gnomAD v4:
1-237711768-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237711768C>T , CM000663.2:g.237711768C>T | GRCh38 |
| NC_000001.10:g.237875068C>T , CM000663.1:g.237875068C>T | GRCh37 |
| NC_000001.9:g.235941691C>T | NCBI36 |
| NG_008799.2:g.674367C>T | |
| NG_008799.3:g.674585C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609119.2:c.*1289C>T | ENSP00000499659.2:n.*1289C>T | |
| ENST00000659194.3:c.10254C>T | ENSP00000499653.3:p.Asn3418= | |
| ENST00000660292.2:c.10254C>T | ENSP00000499787.2:p.Asn3418= | |
| ENST00000659194.2:c.2443C>T | ||
| ENST00000366574.7:c.10254C>T MANE Select | ENSP00000355533.2:p.Asn3418= | |
| ENST00000659194.1:c.2443C>T | ||
| ENST00000660292.1:c.286C>T | ||
| ENST00000661330.1:c.61C>T | ||
| ENST00000360064.7:c.10206C>T | ENSP00000353174.7:p.Asn3402= | |
| ENST00000366574.6:c.10254C>T | ENSP00000355533.2:p.Asn3418= | |
| ENST00000609119.1:n.1392C>T | ||
| NM_001035.2:c.10254C>T | NP_001026.2:p.Asn3418= | |
| XM_006711802.2:c.10284C>T | XP_006711865.1:p.Asn3428= | |
| XM_006711803.2:c.10281C>T | XP_006711866.1:p.Asn3427= | |
| XM_006711804.2:c.10284C>T | XP_006711867.1:p.Asn3428= | |
| XM_006711805.2:c.10254C>T | XP_006711868.1:p.Asn3418= | |
| XM_006711806.2:c.10284C>T | XP_006711869.1:p.Asn3428= | |
| XM_006711807.2:c.10284C>T | XP_006711870.1:p.Asn3428= | |
| XM_006711808.2:c.10047C>T | XP_006711871.1:p.Asn3349= | |
| XM_006711810.2:c.10251C>T | XP_006711873.1:p.Asn3417= | |
| XM_006711802.3:c.10284C>T | XP_006711865.1:p.Asn3428= | |
| XM_006711803.3:c.10281C>T | XP_006711866.1:p.Asn3427= | |
| XM_006711804.3:c.10284C>T | XP_006711867.1:p.Asn3428= | |
| XM_006711805.3:c.10254C>T | XP_006711868.1:p.Asn3418= | |
| XM_006711806.3:c.10284C>T | XP_006711869.1:p.Asn3428= | |
| XM_006711807.3:c.10284C>T | XP_006711870.1:p.Asn3428= | |
| XM_006711808.3:c.10047C>T | XP_006711871.1:p.Asn3349= | |
| XM_006711810.3:c.10251C>T | XP_006711873.1:p.Asn3417= | |
| XM_017002028.1:c.10263C>T | XP_016857517.1:p.Asn3421= | |
| NM_001035.3:c.10254C>T MANE Select | NP_001026.2:p.Asn3418= |