Linked Data
ClinVar Variation Id:
12069
ClinVar RCV Id:
RCV000012850
dbSNP Id:
rs121964928
gnomAD v4:
13-113117504-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113117504G>A , CM000675.2:g.113117504G>A | GRCh38 |
| NC_000013.10:g.113771818G>A , CM000675.1:g.113771818G>A | GRCh37 |
| NC_000013.9:g.112819819G>A | NCBI36 |
| NG_009262.1:g.16714G>A , LRG_554:g.16714G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346342.8:c.647G>A MANE Select | ENSP00000329546.4:p.Cys216Tyr | |
| ENST00000346342.7:c.647G>A | ENSP00000329546.3:p.Cys216Tyr | |
| ENST00000375581.3:c.713G>A | ENSP00000364731.3:p.Cys238Tyr | |
| ENST00000541084.5:c.461G>A | ENSP00000442051.2:p.Cys154Tyr | |
| NM_000131.4:c.713G>A , LRG_554t1:c.713G>A | NP_000122.1:p.Cys238Tyr | |
| NM_001267554.1:c.461G>A | NP_001254483.1:p.Cys154Tyr | |
| NM_019616.3:c.647G>A , LRG_554t2:c.647G>A | NP_062562.1:p.Cys216Tyr | |
| NR_051961.1:n.734G>A | ||
| XM_006719963.2:c.506G>A | XP_006720026.1:p.Cys169Tyr | |
| XM_011537474.1:c.755G>A | XP_011535776.1:p.Cys252Tyr | |
| XM_011537475.1:c.569G>A | XP_011535777.1:p.Cys190Tyr | |
| XM_011537476.1:c.407G>A | XP_011535778.1:p.Cys136Tyr | |
| XM_011537477.1:c.716G>A | XP_011535779.1:p.Cys239Tyr | |
| XM_006719963.3:c.551G>A | XP_006720026.2:p.Cys184Tyr | |
| XM_011537474.2:c.800G>A | XP_011535776.2:p.Cys267Tyr | |
| XM_011537475.2:c.614G>A | XP_011535777.2:p.Cys205Tyr | |
| XM_011537476.2:c.407G>A | XP_011535778.1:p.Cys136Tyr | |
| NM_019616.4:c.647G>A MANE Select | NP_062562.1:p.Cys216Tyr | |
| NR_051961.2:n.731G>A | ||
| NM_001267554.2:c.461G>A | NP_001254483.1:p.Cys154Tyr |