Linked Data
ClinVar Variation Id:
99605
ClinVar RCV Id:
RCV000086001
RCV000787829
RCV000990235
RCV001089193
RCV001131568
RCV001257854
RCV001131569
dbSNP Id:
rs61748442
ExAC:
19:48342749 A / G
gnomAD v2:
19-48342749-A-G
gnomAD v3:
19-47839492-A-G
gnomAD v4:
19-47839492-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47839492A>G , CM000681.2:g.47839492A>G | GRCh38 |
| NC_000019.9:g.48342749A>G , CM000681.1:g.48342749A>G | GRCh37 |
| NC_000019.8:g.53034561A>G | NCBI36 |
| NG_008605.1:g.22651A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221996.12:c.425A>G MANE Select | ENSP00000221996.5:p.Tyr142Cys | |
| ENST00000221996.11:c.425A>G | ENSP00000221996.5:p.Tyr142Cys | |
| ENST00000539067.5:c.425A>G | ENSP00000445565.1:p.Tyr142Cys | |
| ENST00000613299.1:c.*147A>G | ENSP00000478106.1:n.*147A>G | |
| NM_000554.4:c.425A>G | NP_000545.1:p.Tyr142Cys | |
| NM_000554.5:c.425A>G | NP_000545.1:p.Tyr142Cys | |
| NM_000554.6:c.425A>G MANE Select | NP_000545.1:p.Tyr142Cys |