Linked Data
dbSNP Id:
rs746993032
ExAC:
4:187201500 T / G
gnomAD v2:
4-187201500-T-G
gnomAD v3:
4-186280346-T-G
gnomAD v4:
4-186280346-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186280346T>G , CM000666.2:g.186280346T>G | GRCh38 |
| NC_000004.11:g.187201500T>G , CM000666.1:g.187201500T>G | GRCh37 |
| NC_000004.10:g.187438494T>G | NCBI36 |
| NG_008051.1:g.19383T>G , LRG_583:g.19383T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.989T>G MANE Select | ENSP00000384957.2:p.Phe330Cys | |
| ENST00000264692.8:c.827T>G | ENSP00000264692.5:p.Phe276Cys | |
| ENST00000403665.6:c.989T>G | ENSP00000384957.2:p.Phe330Cys | |
| ENST00000452239.1:c.436T>G | ||
| NM_000128.3:c.989T>G , LRG_583t1:c.989T>G | NP_000119.1:p.Phe330Cys | |
| XM_005262821.2:c.989T>G | XP_005262878.1:p.Phe330Cys | |
| XM_005262822.2:c.989T>G | XP_005262879.1:p.Phe330Cys | |
| XM_005262823.2:c.719T>G | XP_005262880.1:p.Phe240Cys | |
| XM_005262824.1:c.989T>G | XP_005262881.1:p.Phe330Cys | |
| XM_006714137.1:c.941T>G | XP_006714200.1:p.Phe314Cys | |
| XR_938706.1:n.1341T>G | ||
| XR_938707.1:n.1341T>G | ||
| XM_005262821.4:c.989T>G | XP_005262878.1:p.Phe330Cys | |
| XM_005262822.4:c.989T>G | XP_005262879.1:p.Phe330Cys | |
| XM_005262823.4:c.719T>G | XP_005262880.1:p.Phe240Cys | |
| XM_006714137.3:c.941T>G | XP_006714200.1:p.Phe314Cys | |
| XM_017007884.2:c.989T>G | XP_016863373.1:p.Phe330Cys | |
| XM_017007885.2:c.989T>G | XP_016863374.1:p.Phe330Cys | |
| XM_017007886.2:c.989T>G | XP_016863375.1:p.Phe330Cys | |
| XR_001741172.2:n.1322T>G | ||
| NM_000128.4:c.989T>G MANE Select | NP_000119.1:p.Phe330Cys |