Linked Data
ClinVar Variation Id:
265933
ClinVar RCV Id:
RCV000256274
RCV000771113
RCV001099242
RCV000417261
RCV001284675
RCV002365275
RCV002463441
RCV001194053
RCV004535242
dbSNP Id:
rs148195424
ExAC:
1:55518374 C / T
gnomAD v2:
1-55518374-C-T
gnomAD v3:
1-55052701-C-T
gnomAD v4:
1-55052701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55052701C>T , CM000663.2:g.55052701C>T | GRCh38 |
| NC_000001.10:g.55518374C>T , CM000663.1:g.55518374C>T | GRCh37 |
| NC_000001.9:g.55290962C>T | NCBI36 |
| NG_009061.1:g.18155C>T , LRG_275:g.18155C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.709C>T | ENSP00000501161.2:p.Arg237Trp | |
| ENST00000710286.1:c.1066C>T | ENSP00000518176.1:p.Arg356Trp | |
| ENST00000673903.1:c.334C>T | ENSP00000501257.1:p.Arg112Trp | |
| ENST00000302118.5:c.709C>T MANE Select | ENSP00000303208.5:p.Arg237Trp | |
| ENST00000490692.1:n.1530C>T | ||
| NM_174936.3:c.709C>T , LRG_275t1:c.709C>T | NP_777596.2:p.Arg237Trp | |
| NR_110451.1:n.368C>T | ||
| NM_174936.4:c.709C>T MANE Select | NP_777596.2:p.Arg237Trp | |
| NR_110451.2:n.368C>T |