Linked Data
ClinVar Variation Id:
2031098
ClinVar RCV Id:
RCV002872196
dbSNP Id:
rs1935955731
gnomAD v3:
3-138945989-A-C
gnomAD v4:
3-138945989-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945989A>C , CM000665.2:g.138945989A>C | GRCh38 |
| NC_000003.11:g.138664831A>C , CM000665.1:g.138664831A>C | GRCh37 |
| NC_000003.10:g.140147521A>C | NCBI36 |
| NG_012454.1:g.6152T>G | |
| NG_029796.1:g.3756A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.734T>G MANE Select | ENSP00000497217.1:p.Val245Gly | |
| ENST00000330315.3:c.734T>G | ENSP00000333188.3:p.Val245Gly | |
| NM_023067.3:c.734T>G | NP_075555.1:p.Val245Gly | |
| NM_023067.4:c.734T>G MANE Select | NP_075555.1:p.Val245Gly |