Linked Data
ClinVar Variation Id:
227980
ClinVar RCV Id:
RCV001002765
RCV001120531
RCV001589120
RCV002295290
RCV002315673
RCV000218064
RCV000867209
dbSNP Id:
rs78644690
ExAC:
16:2550849 C / T
gnomAD v2:
16-2550849-C-T
gnomAD v3:
16-2500848-C-T
gnomAD v4:
16-2500848-C-T
PubMed:
PMID:24291220
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2500848C>T , CM000678.2:g.2500848C>T | GRCh38 |
| NC_000016.9:g.2550849C>T , CM000678.1:g.2550849C>T | GRCh37 |
| NC_000016.8:g.2490850C>T | NCBI36 |
| NG_028170.1:g.30703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567020.6:c.1552C>T | ENSP00000454408.1:p.Arg518Trp | |
| ENST00000569874.2:c.1552C>T | ENSP00000455005.2:p.Arg518Trp | |
| ENST00000646147.1:c.1570C>T MANE Select | ENSP00000494678.1:p.Arg524Trp | |
| ENST00000293970.9:c.1570C>T | ENSP00000293970.5:p.Arg524Trp | |
| ENST00000564543.1:c.965+3735C>T | ENSP00000455547.1:n.965+3735C>T | |
| ENST00000564879.2:c.439C>T | ||
| ENST00000567020.5:c.1552C>T | ENSP00000454408.1:p.Arg518Trp | |
| ENST00000627285.1:c.1552C>T | ENSP00000486121.1:p.Arg518Trp | |
| ENST00000630263.2:c.*528C>T | ENSP00000486835.1:n.*528C>T | |
| NM_001199107.1:c.1570C>T | NP_001186036.1:p.Arg524Trp | |
| NM_020705.2:c.1552C>T | NP_065756.1:p.Arg518Trp | |
| XM_017023493.1:c.1570C>T | XP_016878982.1:p.Arg524Trp | |
| XM_017023494.1:c.1552C>T | XP_016878983.1:p.Arg518Trp | |
| XM_017023495.1:c.1552C>T | XP_016878984.1:p.Arg518Trp | |
| XR_001751956.1:n.1752C>T | ||
| NM_001199107.2:c.1570C>T MANE Select | NP_001186036.1:p.Arg524Trp | |
| NM_020705.3:c.1552C>T | NP_065756.1:p.Arg518Trp |