Linked Data
ClinVar Variation Id:
3024027
ClinVar RCV Id:
RCV003881122
dbSNP Id:
rs752201210
ExAC:
1:32740949 C / T
gnomAD v2:
1-32740949-C-T
gnomAD v3:
1-32275348-C-T
gnomAD v4:
1-32275348-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32275348C>T , CM000663.2:g.32275348C>T | GRCh38 |
| NC_000001.10:g.32740949C>T , CM000663.1:g.32740949C>T | GRCh37 |
| NC_000001.9:g.32513536C>T | NCBI36 |
| NG_023387.1:g.29110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355928.8:n.829C>T | ||
| ENST00000482949.6:c.480C>T | ENSP00000431517.2:p.Ser160= | |
| ENST00000495610.7:c.306C>T | ENSP00000435605.2:p.Ser102= | |
| ENST00000696990.1:c.215C>T | ENSP00000513026.1:p.Pro72Leu | |
| ENST00000336890.10:c.306C>T MANE Select | ENSP00000337825.5:p.Ser102= | |
| ENST00000333070.4:c.306C>T | ENSP00000328213.4:p.Ser102= | |
| ENST00000336890.9:c.306C>T | ENSP00000337825.5:p.Ser102= | |
| ENST00000373557.6:c.438C>T | ENSP00000362658.2:p.Ser146= | |
| ENST00000373562.7:c.306C>T | ENSP00000362663.3:p.Ser102= | |
| ENST00000373564.7:c.480C>T | ENSP00000362665.3:p.Ser160= | |
| ENST00000469765.5:n.365C>T | ||
| ENST00000476457.5:n.622C>T | ||
| ENST00000482949.5:c.480C>T | ENSP00000431517.1:p.Ser160= | |
| ENST00000495610.6:c.306C>T | ENSP00000435605.1:p.Ser102= | |
| ENST00000619559.4:c.306C>T | ENSP00000477713.1:p.Ser102= | |
| NM_001042771.2:c.306C>T | NP_001036236.1:p.Ser102= | |
| NM_005356.4:c.306C>T | NP_005347.3:p.Ser102= | |
| XM_011541453.1:c.480C>T | XP_011539755.1:p.Ser160= | |
| XM_011541454.1:c.480C>T | XP_011539756.1:p.Ser160= | |
| XM_011541455.1:c.306C>T | XP_011539757.1:p.Ser102= | |
| NM_001330468.1:c.306C>T | NP_001317397.1:p.Ser102= | |
| XM_011541453.3:c.480C>T | XP_011539755.1:p.Ser160= | |
| XM_024447046.1:c.480C>T | XP_024302814.1:p.Ser160= | |
| XM_024447047.1:c.480C>T | XP_024302815.1:p.Ser160= | |
| NM_005356.5:c.306C>T MANE Select | NP_005347.3:p.Ser102= | |
| NM_001330468.2:c.306C>T | NP_001317397.1:p.Ser102= | |
| NM_001042771.3:c.306C>T | NP_001036236.1:p.Ser102= |