Linked Data
ClinVar Variation Id:
17657
ClinVar RCV Id:
RCV002279930
dbSNP Id:
rs121912773
PubMed:
PMID:10951237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104053072C>T , CM000672.2:g.104053072C>T | GRCh38 |
| NC_000010.10:g.105812830C>T , CM000672.1:g.105812830C>T | GRCh37 |
| NC_000010.9:g.105802820C>T | NCBI36 |
| NG_007069.1:g.37809G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369733.8:c.1898G>A | ENSP00000358748.3:p.Gly633Asp | |
| ENST00000648076.2:c.1898G>A MANE Select | ENSP00000497653.1:p.Gly633Asp | |
| ENST00000353479.9:c.1898G>A | ENSP00000340937.5:p.Gly633Asp | |
| ENST00000369733.7:c.1898G>A | ENSP00000358748.3:p.Gly633Asp | |
| NM_000494.3:c.1898G>A | NP_000485.3:p.Gly633Asp | |
| NM_000494.4:c.1898G>A MANE Select | NP_000485.3:p.Gly633Asp |