Linked Data
ClinVar Variation Id:
2153149
ClinVar RCV Id:
RCV003085517
dbSNP Id:
rs746409513
ExAC:
5:177419841 C / T
gnomAD v2:
5-177419841-C-T
gnomAD v3:
5-177992840-C-T
gnomAD v4:
5-177992840-C-T
COSMIC:
COSM6034440
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992840C>T , CM000667.2:g.177992840C>T | GRCh38 |
| NC_000005.9:g.177419841C>T , CM000667.1:g.177419841C>T | GRCh37 |
| NC_000005.8:g.177352447C>T | NCBI36 |
| NG_015889.1:g.8403G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.550G>A MANE Select | ENSP00000311290.2:p.Ala184Thr | |
| NM_006261.4:c.550G>A | NP_006252.3:p.Ala184Thr | |
| NM_006261.5:c.550G>A MANE Select | NP_006252.4:p.Ala184Thr |