Linked Data
ClinVar Variation Id:
18230
ClinVar RCV Id:
RCV000019891
dbSNP Id:
rs78283180
PubMed:
PMID:7882997
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73409363A>G , CM000666.2:g.73409363A>G | GRCh38 |
| NC_000004.11:g.74275080A>G , CM000666.1:g.74275080A>G | GRCh37 |
| NC_000004.10:g.74493944A>G | NCBI36 |
| NG_009291.1:g.10109A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.491A>G MANE Select | ENSP00000295897.4:p.Tyr164Cys | |
| ENST00000295897.8:c.491A>G | ENSP00000295897.4:p.Tyr164Cys | |
| ENST00000401494.7:c.146A>G | ENSP00000384695.3:p.Tyr49Cys | |
| ENST00000415165.6:c.138-2633A>G | ENSP00000401820.2:n.138-2633A>G | |
| ENST00000441319.5:c.497A>G | ENSP00000392541.1:p.Tyr166Cys | |
| ENST00000476441.6:c.88A>G | ENSP00000423727.1:p.Met30Val | |
| ENST00000503124.5:c.41A>G | ENSP00000421027.1:p.Tyr14Cys | |
| ENST00000505649.5:n.177A>G | ||
| ENST00000509063.5:c.491A>G | ENSP00000422784.1:p.Tyr164Cys | |
| ENST00000511370.1:c.24A>G | ||
| ENST00000514786.1:n.460A>G | ||
| ENST00000621085.4:c.490+1A>G | ENSP00000483421.1:n.490+1A>G | |
| ENST00000621628.4:c.486+287A>G | ENSP00000480485.1:n.486+287A>G | |
| NM_000477.5:c.491A>G | NP_000468.1:p.Tyr164Cys | |
| NM_000477.6:c.491A>G | NP_000468.1:p.Tyr164Cys | |
| NM_000477.7:c.491A>G MANE Select | NP_000468.1:p.Tyr164Cys |