Linked Data
ClinVar Variation Id:
1211
ClinVar RCV Id:
RCV000001270
dbSNP Id:
rs118204006
ExAC:
10:82034355 C / T
gnomAD v2:
10-82034355-C-T
gnomAD v4:
10-80274599-C-T
PubMed:
PMID:10677294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80274599C>T , CM000672.2:g.80274599C>T | GRCh38 |
| NC_000010.10:g.82034355C>T , CM000672.1:g.82034355C>T | GRCh37 |
| NC_000010.9:g.82024335C>T | NCBI36 |
| NG_008083.1:g.20080G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372213.8:c.1006G>A MANE Select | ENSP00000361287.3:p.Gly336Arg | |
| ENST00000372213.7:c.1006G>A | ENSP00000361287.3:p.Gly336Arg | |
| ENST00000480845.1:n.238G>A | ||
| ENST00000485270.5:n.518G>A | ||
| NM_000429.2:c.1006G>A | NP_000420.1:p.Gly336Arg | |
| XM_005269842.3:c.1006G>A | XP_005269899.1:p.Gly336Arg | |
| XM_005269843.3:c.883G>A | XP_005269900.1:p.Gly295Arg | |
| NM_000429.3:c.1006G>A MANE Select | NP_000420.1:p.Gly336Arg |