Linked Data
ClinVar Variation Id:
456351
dbSNP Id:
rs540805431
ExAC:
3:10107551 G / C
gnomAD v2:
3-10107551-G-C
gnomAD v3:
3-10065867-G-C
gnomAD v4:
3-10065867-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10065867G>C , CM000665.2:g.10065867G>C | GRCh38 |
| NC_000003.11:g.10107551G>C , CM000665.1:g.10107551G>C | GRCh37 |
| NC_000003.10:g.10082551G>C | NCBI36 |
| NG_007311.1:g.44439G>C , LRG_306:g.44439G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681997.1:n.1357G>C | ||
| ENST00000683263.1:n.1272G>C | ||
| ENST00000675286.1:c.2273G>C MANE Select | ENSP00000502379.1:p.Cys758Ser | |
| ENST00000676013.1:c.2162G>C | ENSP00000501999.1:p.Cys721Ser | |
| ENST00000287647.7:c.2273G>C | ENSP00000287647.3:p.Cys758Ser | |
| ENST00000383807.5:c.2273G>C | ENSP00000373318.1:p.Cys758Ser | |
| ENST00000419585.5:c.2273G>C | ENSP00000398754.1:p.Cys758Ser | |
| ENST00000421731.5:c.772G>C | ||
| ENST00000470757.5:n.327G>C | ||
| ENST00000480909.1:n.288G>C | ||
| NM_001018115.1:c.2273G>C , LRG_306t1:c.2273G>C | NP_001018125.1:p.Cys758Ser | |
| NM_033084.3:c.2273G>C , LRG_306t2:c.2273G>C | NP_149075.2:p.Cys758Ser | |
| XM_005264946.2:c.2273G>C | XP_005265003.1:p.Cys758Ser | |
| XM_005264947.2:c.278G>C | XP_005265004.1:p.Cys93Ser | |
| XM_006713021.2:c.2273G>C | XP_006713084.1:p.Cys758Ser | |
| XM_006713023.2:c.2273G>C | XP_006713086.1:p.Cys758Ser | |
| XM_006713024.2:c.2273G>C | XP_006713087.1:p.Cys758Ser | |
| XM_011533479.1:c.2273G>C | XP_011531781.1:p.Cys758Ser | |
| XM_011533480.1:c.1124G>C | XP_011531782.1:p.Cys375Ser | |
| XR_940391.1:n.2393G>C | ||
| NM_001018115.2:c.2273G>C | NP_001018125.1:p.Cys758Ser | |
| NM_001319984.1:c.2273G>C | NP_001306913.1:p.Cys758Ser | |
| NM_033084.4:c.2273G>C | NP_149075.2:p.Cys758Ser | |
| NM_001018115.3:c.2273G>C MANE Select | NP_001018125.1:p.Cys758Ser | |
| NM_001319984.2:c.2273G>C | NP_001306913.1:p.Cys758Ser | |
| NM_001374253.1:c.2162G>C | NP_001361182.1:p.Cys721Ser | |
| NM_001374254.1:c.2273G>C | NP_001361183.1:p.Cys758Ser | |
| NM_033084.6:c.2273G>C | NP_149075.2:p.Cys758Ser |