Linked Data
dbSNP Id:
rs1480603051
gnomAD v3:
3-138946060-C-T
gnomAD v4:
3-138946060-C-T
MyVariant Identifiers:
chr3:g.138664902C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946060C>T , CM000665.2:g.138946060C>T | GRCh38 |
| NC_000003.11:g.138664902C>T , CM000665.1:g.138664902C>T | GRCh37 |
| NC_000003.10:g.140147592C>T | NCBI36 |
| NG_012454.1:g.6081G>A | |
| NG_029796.1:g.3827C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.663G>A MANE Select | ENSP00000497217.1:p.Ala221= | |
| ENST00000330315.3:c.663G>A | ENSP00000333188.3:p.Ala221= | |
| NM_023067.3:c.663G>A | NP_075555.1:p.Ala221= | |
| NM_023067.4:c.663G>A MANE Select | NP_075555.1:p.Ala221= |