Linked Data
ClinVar Variation Id:
194862
dbSNP Id:
rs150508296
ExAC:
12:124239020 T / C
gnomAD v2:
12-124239020-T-C
gnomAD v3:
12-123754473-T-C
gnomAD v4:
12-123754473-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123754473T>C , CM000674.2:g.123754473T>C | GRCh38 |
| NC_000012.11:g.124239020T>C , CM000674.1:g.124239020T>C | GRCh37 |
| NC_000012.10:g.122804973T>C | NCBI36 |
| NG_012743.1:g.47156T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.2229T>C MANE Select | ENSP00000332247.2:p.Cys743= | |
| ENST00000540368.6:n.2260T>C | ||
| ENST00000674794.1:c.2317T>C | ||
| ENST00000675344.1:c.*1250T>C | ENSP00000501953.1:n.*1250T>C | |
| ENST00000330342.7:c.2229T>C | ENSP00000332247.2:p.Cys743= | |
| ENST00000534943.5:c.69T>C | ENSP00000443726.1:p.Cys23= | |
| ENST00000544833.1:c.75T>C | ENSP00000441143.1:p.Cys25= | |
| NM_012463.3:c.2229T>C | NP_036595.2:p.Cys743= | |
| XM_005253563.1:c.2109T>C | XP_005253620.1:p.Cys703= | |
| XM_006719317.2:c.1716T>C | XP_006719380.1:p.Cys572= | |
| XM_006719318.2:c.1407T>C | XP_006719381.1:p.Cys469= | |
| XR_429088.1:n.2392T>C | ||
| XM_024448910.1:c.2109T>C | XP_024304678.1:p.Cys703= | |
| XM_024448911.1:c.1716T>C | XP_024304679.1:p.Cys572= | |
| XM_024448912.1:c.1407T>C | XP_024304680.1:p.Cys469= | |
| NM_012463.4:c.2229T>C MANE Select | NP_036595.2:p.Cys743= |