Linked Data
dbSNP Id:
rs762316798
ExAC:
4:187197492 G / T
gnomAD v2:
4-187197492-G-T
gnomAD v3:
4-186276338-G-T
gnomAD v4:
4-186276338-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186276338G>T , CM000666.2:g.186276338G>T | GRCh38 |
| NC_000004.11:g.187197492G>T , CM000666.1:g.187197492G>T | GRCh37 |
| NC_000004.10:g.187434486G>T | NCBI36 |
| NG_008051.1:g.15375G>T , LRG_583:g.15375G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.703G>T MANE Select | ENSP00000384957.2:p.Gly235Cys | |
| ENST00000264692.8:c.541G>T | ENSP00000264692.5:p.Gly181Cys | |
| ENST00000403665.6:c.703G>T | ENSP00000384957.2:p.Gly235Cys | |
| ENST00000452239.1:c.150G>T | ||
| NM_000128.3:c.703G>T , LRG_583t1:c.703G>T | NP_000119.1:p.Gly235Cys | |
| XM_005262821.2:c.703G>T | XP_005262878.1:p.Gly235Cys | |
| XM_005262822.2:c.703G>T | XP_005262879.1:p.Gly235Cys | |
| XM_005262823.2:c.485+2063G>T | XP_005262880.1:n.485+2063G>T | |
| XM_005262824.1:c.703G>T | XP_005262881.1:p.Gly235Cys | |
| XM_006714137.1:c.703G>T | XP_006714200.1:p.Gly235Cys | |
| XR_938706.1:n.1055G>T | ||
| XR_938707.1:n.1055G>T | ||
| XM_005262821.4:c.703G>T | XP_005262878.1:p.Gly235Cys | |
| XM_005262822.4:c.703G>T | XP_005262879.1:p.Gly235Cys | |
| XM_005262823.4:c.485+2063G>T | XP_005262880.1:n.485+2063G>T | |
| XM_006714137.3:c.703G>T | XP_006714200.1:p.Gly235Cys | |
| XM_017007884.2:c.703G>T | XP_016863373.1:p.Gly235Cys | |
| XM_017007885.2:c.703G>T | XP_016863374.1:p.Gly235Cys | |
| XM_017007886.2:c.703G>T | XP_016863375.1:p.Gly235Cys | |
| XR_001741172.2:n.1036G>T | ||
| NM_000128.4:c.703G>T MANE Select | NP_000119.1:p.Gly235Cys |