Linked Data
ClinVar Variation Id:
99084
ClinVar RCV Id:
RCV000085428
RCV000408597
RCV000504951
RCV000850520
RCV001723664
RCV002250560
RCV001849310
RCV001353025
RCV002498452
RCV003324506
dbSNP Id:
rs61749409
ExAC:
1:94528266 G / A
gnomAD v2:
1-94528266-G-A
gnomAD v3:
1-94062710-G-A
gnomAD v4:
1-94062710-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062710G>A , CM000663.2:g.94062710G>A | GRCh38 |
| NC_000001.10:g.94528266G>A , CM000663.1:g.94528266G>A | GRCh37 |
| NC_000001.9:g.94300854G>A | NCBI36 |
| NG_009073.1:g.63440C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1804C>T MANE Select | ENSP00000359245.3:p.Arg602Trp | |
| ENST00000649773.1:c.1804C>T | ENSP00000496882.1:p.Arg602Trp | |
| ENST00000370225.3:c.1804C>T | ENSP00000359245.3:p.Arg602Trp | |
| ENST00000536513.5:c.-65+464C>T | ENSP00000439707.2:n.-65+464C>T | |
| NM_000350.2:c.1804C>T | NP_000341.2:p.Arg602Trp | |
| NM_000350.3:c.1804C>T MANE Select | NP_000341.2:p.Arg602Trp |