Linked Data
ClinVar Variation Id:
4089
ClinVar RCV Id:
RCV000004305
RCV000004306
RCV000004307
RCV000266165
RCV000275762
RCV000586600
RCV000624686
RCV000641290
RCV000999764
RCV001030752
RCV001030753
RCV002276530
dbSNP Id:
rs104893915
ExAC:
5:149359991 C / T
gnomAD v2:
5-149359991-C-T
gnomAD v3:
5-149980428-C-T
gnomAD v4:
5-149980428-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980428C>T , CM000667.2:g.149980428C>T | GRCh38 |
| NC_000005.9:g.149359991C>T , CM000667.1:g.149359991C>T | GRCh37 |
| NC_000005.8:g.149340184C>T | NCBI36 |
| NG_007147.2:g.21546C>T , LRG_684:g.21546C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286298.5:c.835C>T MANE Select | ENSP00000286298.4:p.Arg279Trp | |
| ENST00000286298.4:c.835C>T | ENSP00000286298.4:p.Arg279Trp | |
| ENST00000503336.1:c.372+2077C>T | ENSP00000426053.1:n.372+2077C>T | |
| NM_000112.3:c.835C>T , LRG_684t1:c.835C>T | NP_000103.2:p.Arg279Trp | |
| XM_017009191.2:c.835C>T | XP_016864680.1:p.Arg279Trp | |
| NM_000112.4:c.835C>T MANE Select | NP_000103.2:p.Arg279Trp |