Linked Data
ClinVar Variation Id:
500950
dbSNP Id:
rs757658916
ExAC:
1:10689717 C / T
gnomAD v2:
1-10689717-C-T
gnomAD v3:
1-10629660-C-T
gnomAD v4:
1-10629660-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10629660C>T , CM000663.2:g.10629660C>T | GRCh38 |
| NC_000001.10:g.10689717C>T , CM000663.1:g.10689717C>T | GRCh37 |
| NC_000001.9:g.10612304C>T | NCBI36 |
| NG_008340.1:g.159715C>T | |
| NG_008340.2:g.159715C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.807C>T MANE Select | ENSP00000349016.4:p.Asn269= | |
| ENST00000356607.8:c.807C>T | ENSP00000349016.4:p.Asn269= | |
| NM_004565.2:c.807C>T | NP_004556.1:p.Asn269= | |
| XM_005263470.3:c.615C>T | XP_005263527.1:p.Asn205= | |
| XM_011541577.1:c.849C>T | XP_011539879.1:p.Asn283= | |
| XM_011541578.1:c.750C>T | XP_011539880.1:p.Asn250= | |
| XM_011541579.1:c.720C>T | XP_011539881.1:p.Asn240= | |
| XM_011541580.1:c.678C>T | XP_011539882.1:p.Asn226= | |
| XM_005263470.5:c.615C>T | XP_005263527.1:p.Asn205= | |
| XM_011541577.2:c.849C>T | XP_011539879.1:p.Asn283= | |
| XM_011541578.2:c.750C>T | XP_011539880.1:p.Asn250= | |
| XM_011541579.3:c.720C>T | XP_011539881.1:p.Asn240= | |
| XM_024447651.1:c.615C>T | XP_024303419.1:p.Asn205= | |
| NM_004565.3:c.807C>T MANE Select | NP_004556.1:p.Asn269= |