Linked Data
dbSNP Id:
rs2107743000
gnomAD v4:
3-138945613-C-T
MyVariant Identifiers:
chr3:g.138664455C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945613C>T , CM000665.2:g.138945613C>T | GRCh38 |
| NC_000003.11:g.138664455C>T , CM000665.1:g.138664455C>T | GRCh37 |
| NC_000003.10:g.140147145C>T | NCBI36 |
| NG_012454.1:g.6528G>A | |
| NG_029796.1:g.3380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.1110G>A MANE Select | ENSP00000497217.1:p.Leu370= | |
| ENST00000330315.3:c.1110G>A | ENSP00000333188.3:p.Leu370= | |
| NM_023067.3:c.1110G>A | NP_075555.1:p.Leu370= | |
| NM_023067.4:c.1110G>A MANE Select | NP_075555.1:p.Leu370= |