Linked Data
ClinVar Variation Id:
2615765
ClinVar RCV Id:
RCV003379191
dbSNP Id:
rs200051419
gnomAD v2:
3-172165987-C-G
gnomAD v3:
3-172448197-C-G
gnomAD v4:
3-172448197-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448197C>G , CM000665.2:g.172448197C>G | GRCh38 |
| NC_000003.11:g.172165987C>G , CM000665.1:g.172165987C>G | GRCh37 |
| NC_000003.10:g.173648681C>G | NCBI36 |
| NG_021159.1:g.5260G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.217G>C MANE Select | ENSP00000241256.2:p.Glu73Gln | |
| ENST00000241256.2:c.217G>C | ENSP00000241256.2:p.Glu73Gln | |
| ENST00000427970.1:c.217G>C | ENSP00000395344.1:p.Glu73Gln | |
| NM_004122.2:c.217G>C | NP_004113.1:p.Glu73Gln | |
| NM_198407.2:c.217G>C MANE Select | NP_940799.1:p.Glu73Gln |