Linked Data
ClinVar Variation Id:
550222
ClinVar RCV Id:
RCV000664913
dbSNP Id:
rs757817254
ExAC:
4:187197388 G / A
gnomAD v2:
4-187197388-G-A
gnomAD v3:
4-186276234-G-A
gnomAD v4:
4-186276234-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186276234G>A , CM000666.2:g.186276234G>A | GRCh38 |
| NC_000004.11:g.187197388G>A , CM000666.1:g.187197388G>A | GRCh37 |
| NC_000004.10:g.187434382G>A | NCBI36 |
| NG_008051.1:g.15271G>A , LRG_583:g.15271G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.599G>A MANE Select | ENSP00000384957.2:p.Cys200Tyr | |
| ENST00000264692.8:c.437G>A | ENSP00000264692.5:p.Cys146Tyr | |
| ENST00000403665.6:c.599G>A | ENSP00000384957.2:p.Cys200Tyr | |
| ENST00000452239.1:c.46G>A | ||
| NM_000128.3:c.599G>A , LRG_583t1:c.599G>A | NP_000119.1:p.Cys200Tyr | |
| XM_005262821.2:c.599G>A | XP_005262878.1:p.Cys200Tyr | |
| XM_005262822.2:c.599G>A | XP_005262879.1:p.Cys200Tyr | |
| XM_005262823.2:c.485+1959G>A | XP_005262880.1:n.485+1959G>A | |
| XM_005262824.1:c.599G>A | XP_005262881.1:p.Cys200Tyr | |
| XM_006714137.1:c.599G>A | XP_006714200.1:p.Cys200Tyr | |
| XR_938706.1:n.951G>A | ||
| XR_938707.1:n.951G>A | ||
| XM_005262821.4:c.599G>A | XP_005262878.1:p.Cys200Tyr | |
| XM_005262822.4:c.599G>A | XP_005262879.1:p.Cys200Tyr | |
| XM_005262823.4:c.485+1959G>A | XP_005262880.1:n.485+1959G>A | |
| XM_006714137.3:c.599G>A | XP_006714200.1:p.Cys200Tyr | |
| XM_017007884.2:c.599G>A | XP_016863373.1:p.Cys200Tyr | |
| XM_017007885.2:c.599G>A | XP_016863374.1:p.Cys200Tyr | |
| XM_017007886.2:c.599G>A | XP_016863375.1:p.Cys200Tyr | |
| XR_001741172.2:n.932G>A | ||
| NM_000128.4:c.599G>A MANE Select | NP_000119.1:p.Cys200Tyr |