Linked Data
dbSNP Id:
rs1935954308
gnomAD v4:
3-138945952-C-A
MyVariant Identifiers:
chr3:g.138664794C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945952C>A , CM000665.2:g.138945952C>A | GRCh38 |
| NC_000003.11:g.138664794C>A , CM000665.1:g.138664794C>A | GRCh37 |
| NC_000003.10:g.140147484C>A | NCBI36 |
| NG_012454.1:g.6189G>T | |
| NG_029796.1:g.3719C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.771G>T MANE Select | ENSP00000497217.1:p.Pro257= | |
| ENST00000330315.3:c.771G>T | ENSP00000333188.3:p.Pro257= | |
| NM_023067.3:c.771G>T | NP_075555.1:p.Pro257= | |
| NM_023067.4:c.771G>T MANE Select | NP_075555.1:p.Pro257= |