Linked Data
ClinVar Variation Id:
806399
ClinVar RCV Id:
RCV002549861
dbSNP Id:
rs762814340
ExAC:
1:237791194 T / C
gnomAD v2:
1-237791194-T-C
gnomAD v3:
1-237627894-T-C
gnomAD v4:
1-237627894-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237627894T>C , CM000663.2:g.237627894T>C | GRCh38 |
| NC_000001.10:g.237791194T>C , CM000663.1:g.237791194T>C | GRCh37 |
| NC_000001.9:g.235857817T>C | NCBI36 |
| NG_008799.2:g.590493T>C | |
| NG_008799.3:g.590711T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.6254T>C | ENSP00000499659.2:p.Phe2085Ser | |
| ENST00000659194.3:c.6254T>C | ENSP00000499653.3:p.Phe2085Ser | |
| ENST00000660292.2:c.6254T>C | ENSP00000499787.2:p.Phe2085Ser | |
| ENST00000366574.7:c.6254T>C MANE Select | ENSP00000355533.2:p.Phe2085Ser | |
| ENST00000360064.7:c.6206T>C | ENSP00000353174.7:p.Phe2069Ser | |
| ENST00000366574.6:c.6254T>C | ENSP00000355533.2:p.Phe2085Ser | |
| NM_001035.2:c.6254T>C | NP_001026.2:p.Phe2085Ser | |
| XM_006711802.2:c.6284T>C | XP_006711865.1:p.Phe2095Ser | |
| XM_006711803.2:c.6281T>C | XP_006711866.1:p.Phe2094Ser | |
| XM_006711804.2:c.6284T>C | XP_006711867.1:p.Phe2095Ser | |
| XM_006711805.2:c.6254T>C | XP_006711868.1:p.Phe2085Ser | |
| XM_006711806.2:c.6284T>C | XP_006711869.1:p.Phe2095Ser | |
| XM_006711807.2:c.6284T>C | XP_006711870.1:p.Phe2095Ser | |
| XM_006711808.2:c.6284T>C | XP_006711871.1:p.Phe2095Ser | |
| XM_006711809.2:c.6284T>C | XP_006711872.1:p.Phe2095Ser | |
| XM_006711810.2:c.6251T>C | XP_006711873.1:p.Phe2084Ser | |
| XR_949152.1:n.6565T>C | ||
| XM_006711802.3:c.6284T>C | XP_006711865.1:p.Phe2095Ser | |
| XM_006711803.3:c.6281T>C | XP_006711866.1:p.Phe2094Ser | |
| XM_006711804.3:c.6284T>C | XP_006711867.1:p.Phe2095Ser | |
| XM_006711805.3:c.6254T>C | XP_006711868.1:p.Phe2085Ser | |
| XM_006711806.3:c.6284T>C | XP_006711869.1:p.Phe2095Ser | |
| XM_006711807.3:c.6284T>C | XP_006711870.1:p.Phe2095Ser | |
| XM_006711808.3:c.6284T>C | XP_006711871.1:p.Phe2095Ser | |
| XM_006711810.3:c.6251T>C | XP_006711873.1:p.Phe2084Ser | |
| XM_017002028.1:c.6263T>C | XP_016857517.1:p.Phe2088Ser | |
| XR_002957299.1:n.6598T>C | ||
| XR_949152.2:n.6598T>C | ||
| NM_001035.3:c.6254T>C MANE Select | NP_001026.2:p.Phe2085Ser |